A Tipping Point in Dialect Obsolescence? Change across the Generations in Lerwick, Shetland

Keywords: Lerwick, Shetland, dialect obsolescence, change Lerwick, Shetland dialect obsolescence change

The dialect spoken in the Shetland Islands is one of the most distinctive in the British Isles. However, there are claims that this variety is rapidly disappearing, with local forms replaced by more standard variants in the younger generations. In this paper we test these claims through a quantitative analysis of variable forms across three generations of speakers from the main town of Lerwick. We target six variables: two lexical, two morphosyntactic and two phonetic/phonological. Our results show that there is decline in use of the local forms across all six variables. Closer analysis of individual use reveals that the older age cohort form a linguistically homogeneous group. In contrast, the younger speakers form a heterogeneous group: half of the younger speakers have high rates of the local forms, while the other half use the standard variants near-categorically. We suggest that these results may pinpoint the locus of rapid obsolescence in this traditionally relic dialect area.

INTRODUCTION

Research on varieties of English in the British Isles over recent years indicates widespread loss of traditional dialect forms, resulting in dialect 'attrition' across many speech communities. Britain, for example, (2005:35), observes that 'In most cases, and in most places, dialect variation seems radically less marked, less divergent and less locally oriented than that spoken one hundred years ago'. 'Dialect levelling' is seen to be at the core of this process (e.g. Foulkes and Docherty 1999, [START_REF] Kerswill | Dialect levelling and geographical diffusion in British English[END_REF] where young speakers in particular are noted to avoid 'variants which they perceive to be particularly indicative of their local roots' (Foulkes and Docherty 1999:13).

Moreover, evidence suggests that such attrition 'has affected every structural level of the language' (Britain 2009:123) resulting in 'dedialectalisation' (Trudgill 2002:33). and perhaps even dialect death.

The prevalence of loss of traditional forms is highlighted by claims regarding one of the most remote communities in the British Isles, the Shetland Islands in Northern Scotland. Because of Shetland's peripheral geography, coupled with historical socio-cultural isolation, it is said to represent one of 'the best examples of a relic speech form' (Johnston 1997:447), where 'the localised dialect is used by nearly everyone to insiders' (ibid:449). However, it is claimed that socio-economic, cultural and demographic changes arising from a highly developed infrastructure in recent decades have led to 'an unprecedented levelling of the local varieties in recent years' (van Leyden 2004:18), particularly in the main town of Lerwick. Tait (2001:11) goes even further, stating that 'the change which is taking place is not a gradual blending of one form of speech into another: it is the abrupt replacement of one languagephonology, morphology and syntax as well as vocabulary -by another.' These statements suggest that this geographically peripheral and historically isolated community may be undergoing rapid dialect erosion and perhaps even dialect death. However, the empirical evidence to support such claims is sparse: despite some excellent historical and contemporary research on the linguistic situation in the Shetland Isles, to date there have been no studies which provide a time-depth analysis of change in recent generations. In this paper we address this gap by conducting a quantitative, sociolinguistic analysis of a number of linguistic variables across three generations of speakers in Shetland. We expect to find change in the dialect: Shetland would be quite unique if there were none. However, our purpose in this paper is to uncover 1) how rapid this change is and 2) how the change proceeds. Do all individuals participate in the change? Do all linguistic forms? If traditional forms are shown to be obsolescing, is the change 'incongruent and idiosyncratic' (Cook 1989: 235), or characterized by more systematic retreat across the linguistic and social landscape (e.g. [START_REF] Schilling-Estes | Alternative models for dialect death: Dissipation vs. concentration[END_REF][START_REF] King | On the social meaning of linguistic variability in language death situations: Variation in Newfoundland French[END_REF])? Through this analysis, we hope to increase 'our understanding of the linguistic process and the sociolinguistic context of language obsolescence' (Wolfram 2002:764-5) in Shetland which may in turn inform more generally on the issues of dialect levelling, attrition and death in varieties worldwide.

We first situate the research in the wider context of the Shetland Isles past and present.

SHETLAND: LINGUISTIC AND SOCIAL HISTORY

The Shetland Isles is situated in the North Sea, between Norway to the east and Scotland to the south (Figure 1). Its social and linguistic history, both distant and more recent, makes it an ideal site for investigation of change in dialect norms.

[FIGURE 1 ABOUT HERE] Shetland was invaded by the Vikings in the 9 th century, and with these invaders came the language of Norn. This language largely eradicated the indigenous languages of the time and was spoken in Shetland for over 800 years (e.g. [START_REF] Barnes | The Norn Language of Orkney and Shetland[END_REF]:2) until it started to be replaced by Scots from the 16 th century. Debate remains about exactly how, when and why Scots replaced Norn (e.g. [START_REF] Barnes | The Norn Language of Orkney and Shetland[END_REF][START_REF] Petyt | How "worn out" or "corrupted" was Shetland Norn in its final stage?[END_REF]) but a key point was the annexation of Shetland by the Scottish crown at the end of the 15 th century (ibid). A situation of bilingualism is said to have existed in the following period (e.g. [START_REF] Smith | The development of the spoken and written Shetland dialect: a historian's view[END_REF] and by the beginning of the 18 th century Norn as a first language was rare and had largely died out by the end of that century (e.g. Barnes 1998:27).

The present day Shetland dialect is described as a variety of Scots, with elements from both Older Scots and the Norn substratum still in evidence (e.g. [START_REF] Tait | Whit is Shetlandic?[END_REF]:10, Melchers 2004a:285). This results in a number of traditional lexical, morphosyntactic and phonological forms, some of which are unique to the Shetland Isles, and some used more widely throughout Scotland, as shown in the following extract from Lisa, an 18 year old speaker:

(Extract 1) Yeah, this was Capetown. And we started driving oot and er I mind pullin' up ootside this-we got into this, like, road, pullin' up ootside this tiny peerie like hoose and there was all this like peerie kind of like corrugated iron shacks aroon' it. And all this-just all this folk just wanderin' aboot and that, just dirt and mess everywhere and I just mind thinking 'Oh please God, let yon be his, let yon be his house'. And then he said 'This Lisa-this is where you're staying' and I was just like 'Ooh, what have I done' sort of thing. And so I got oot of the car and then, the wife like kind of introduced me to this folk and I gied inside this tiny, tiny, peerie hoose, it was just two rooms. Probably the rooms put together was peerier as this room. And er gied in, they started speaking in yon Xhosa, that's what the-like the kind of dialect they spoke and they started speaking that the whole time.

Gloss (sections glossed are in italics): Yeah, this was Capetown. And we started driving out and er I remember pulling up outside this-we got into this, like, road, pulling up outside this tiny small like house and there was all this like small kind of like corrugated iron shacks around it. And all thisjust all these people just wandering about and that, just dirt and mess everywhere and I just remember thinking 'Oh please God, let that be his, let that be his house'. And then he said 'This Lisa-this is where you're staying' and I was just like 'Ooh, what have I done' sort of thing. And so I got out of the car and then, the woman like kind of introduced me to these people and I went inside this tiny, tiny, small house, it was just two rooms. Probably the rooms put together were smaller than this room. And er went in, they started speaking in Xhosa, that's what the-like the kind of dialect they spoke and they started speaking that the whole time.

It is said that highly localised features (e.g peerie for small, as for comparative than), in tandem with more Scotland-wide features (e.g. yon for that, a monophthongal variant in words such as out and around) are widely used by speakers in Shetland. For example, van Leyden (2004:17) points out that 'There is no Scottish Standard English speaking middle class and virtually all native speakers, from manual workers to university graduates, employ the local dialect in their everyday speech' (see also Johnston 1997:449). Using a standardised form of Scottish English is said to be much maligned (Melchers 1985:98), and even has a particular word to describe it: knapping. However, this situation may be changing: in more recent years, Shetland has seen an influx of outsiders due to the oil boom, and in particular the building of the north sea oil rig terminal at Sullum Voe between 1973 and 1982, with up to 6,000 people employed on the site. Opinions differ as to the effects of this outsider influence. Johnston (1997:449) states that it was felt to be something temporary, which has left the region more prosperous 'but essentially locally-oriented'.

Population statistics show that only a small percentage of the workers settled permanently after the terminal was completed in the 1980s. On the other hand, the 2001 census showed that around 15% of people living in Shetland have come from outside of Scotland and this figure may be growing (Scotland Census 2001). Whereas in the past these in-migrants 'generally acquired the local dialect' (van Leyden 2004:18, see also [START_REF] Scobbie | Interspeaker variation among Shetland Islanders as the long term outcome of dialectally varied input: speech production evidence for fine-Page 40 of 54 For review only[END_REF], in more recent times it is claimed that rather than a process of assimilation, a type of standardised Scottish English is becoming the norm. Melchers (2004a:37) states that it is 'difficult to find truly monolingual speakers of the traditional dialect today', even with families who have lived there for generations.

However, instead of complete dialect loss, she suggests that a situation of bidialectalism prevails, where speakers 'have access to a choice of two discrete, definable forms of speech: 'English' vs. 'Shetland' (ibid:37).

The view from the ground, as it were, indicates that the speakers of Shetland themselves think that the dialect is under threat as evidenced from these extracts from the present study:

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we just spoke away-. (Interviewer) They'll 'talk'. They'll give them a telling off in English! Extract 3: Mary, age 54 (Mary) I suppose at a time as well when, uh, I wouldna say it was just as popular to speak dialect. Certainly when we were at school, you werena supposed to say anything in dialect at the school or you got-you certainly got flitten on badly. But, uh, it's different now, I think, although the bairns might be encouraged, sadly I would think there's probably a lot less dialect spoken. (Interviewer) I think that's right. Du goes by the playground, du can hear that. (Mary) But then there's-there are probably a lot more different influences now. They've got, uh, well they've got the television for a kick off (inc) the groundin' for the bairns, they've-they're been exposed to such a huge range of different ways of speakin', which we werena.

Gloss: (Mary) I suppose at a time as well when, uh, I wouldn't say it was just as popular to speak dialect. Certainly when we were at school, you weren't supposed to say anything in dialect at (the) school or you got-you certainly got picked on badly. But, uh, it's different now, I think, although the children might be encouraged, sadly I would think there's probably a lot less dialect spoken. (Interviewer) I think that's right. You go by the playground, you can hear that. (Mary) But then there's-there are probably a lot more different influences now. They've got, uh, well they've got the television for a kick off (inc) the grounding for the children, they've-they're been exposed to such a huge range of different ways of speakin', which we weren't.

For review only. Confidential. Should not be cited.

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Extract 4: Valerie, age 17 (Interviewer) Ok, and can you recognise where people are fae, fae their accent? (Valerie) Yeah, kind of. You probably-well the islands are really obvious. Sooth end that sounds really the same. But like places like Yell and that you notice. But some folk dinna even-there's quite a lot of folk dinna hae a accent. One of my-a couple of my pals dinna speak the Shetland dialect at a'.

Gloss: (Interviewer) Ok, and can you recognise where people are from, from their accent? (Valerie) Yeah, kind of. You probably-well the islands are really obvious. South end that sounds really the same. But like places like Yell and that you notice. But some folk don't even-there's quite a lot of folk don't have an accent. One of my-a couple of my pals don't speak the Shetland dialect at all.

Thus on the one hand, the Shetland dialect is said to remain quite unique, but on the other hand, this uniqueness may be disappearing to be replaced by more supralocal norms. How can these differing claims on the current state of the dialect be corroborated? There are a number of works from both a diachronic and synchronic perspective, encompassing lexical, grammatical and particularly phonological/phonetic perspectives on the Shetland dialect which provide invaluable descriptions of the Shetland dialect (e.g. [START_REF] Bugge | Shetlan Wirds. En studie av kjennskap til og oppfatninger om det shetlandske dialektordforrådet[END_REF][START_REF] Catford | The linguistics survey of Scotland[END_REF][START_REF] Jakobsen | Etymologisk Ordbog over det Norrøne Sprog på Shetland. Translated as An Etymological Dictionary of the Norn Language in Shetland, 2 volumes[END_REF][START_REF] Jakobsen | Etymologisk Ordbog over det Norrøne Sprog på Shetland. Translated as An Etymological Dictionary of the Norn Language in Shetland, 2 volumes[END_REF][START_REF] Jonas | Clause Structure and Verb Syntax in Scandinavian and English[END_REF][START_REF] Melchers | Modified Scottish' -Some Language Attitudes in the Shetland Isles[END_REF][START_REF] Melchers | Norn-Scots: a complicated language contact situation in Shetland[END_REF], 1996[START_REF] Murison | Scots speech in Shetland[END_REF][START_REF] Robertson | Grammar and Usage of the Shetland Dialect[END_REF][START_REF] Melchers | Norn-Scots: a complicated language contact situation in Shetland[END_REF][START_REF] Scobbie | Interspeaker variation among Shetland Islanders as the long term outcome of dialectally varied input: speech production evidence for fine-Page 40 of 54 For review only[END_REF][START_REF] Smith | The development of the spoken and written Shetland dialect: a historian's view[END_REF], Sundkvist 2004, 2007[START_REF] Van Leyden | Prosodic Characteristics of Orkney and Shetland Dialects. An Experimental Approach[END_REF]. However, as already mentioned, there are no studies which provide a There is 'considerable regional diversity' (van Leyden 2004:17, see also Johnston 1997:448) Whalsay, in particular is said to differ substantially from all other Shetland varieties (van Leyden 2004:17). For this reason, we do not claim that Lerwick is representative of the Shetland Isles more generally, but merely represents one particular variety (or indeed varieties) of many on these islands 2 .

CORPUS

Judgement sampling (e.g. [START_REF] Feagin | Variation and Change in Alabama English: A Sociolinguistic Study of the White Community[END_REF], where a number of predetermined categories are sought, was used in the initial data collection stages of the project. The sample contains 30 adults, equally divided by age and sex. Three age ranges were targeted (17-21, 45-55, 70+) in order to assess change in 'apparent' time (e.g. [START_REF] Bailey | Real and apparent time[END_REF]).

These groups represent three generations of speakers but also represent different 'life stages' (e.g. Eckert 1998:151): the 17-21 year olds are all post-school 'young adult', relatively new to the work context; the 45-55 year olds are well established in the linguistic marketplace, but with family at the heart of their concerns; the 70+ year olds have all been retired for some time. Males and females are included to test for any possible gender effects on use of the variable forms (e.g. [START_REF] Labov | Principles of Linguistic Change Internal Factors[END_REF]). To control the sample as much as possible, participant selection was guided by the following criteria: 1) informant born and raised in Lerwick 2) parents and spouses born and raised in Shetland, 3) informants in Class 2-5 according to the Registrar General's Social Class Index. It should be noted that some of the speakers in all age groups had spent time off the island. However this was not viewed as a barrier to inclusion in the study, as this is a reflection of the Lerwick demographic, where people do often spend at least some time away from the community. For this study, we did not include any speakers who had spent more than one continuous year off the island.

Despite in-migration in the past couple of decades, Lerwick continues to be a close-knit community (e.g. [START_REF] Melchers | Modified Scottish' -Some Language Attitudes in the Shetland Isles[END_REF], which has implications for gaining access to potential informants (e.g. [START_REF] Labov | Sociolinguistic Patterns[END_REF]). To mitigate these problems, interviews were conducted by three locals who are well-embedded within the community structures. Participants were contacted directly by the interviewers and in some cases, the 'friend of a friend' approach [START_REF] Milroy | Page 39 of 54 For review only[END_REF]) was used. The data were collected using standard sociolinguistic techniques [START_REF] Labov | Research methods of the project on linguistic change and variation[END_REF] and lasted from between 1-2 hours. To further mitigate the Observer's Paradox [START_REF] Labov | Sociolinguistic Patterns[END_REF]) the interviews took place in the informants' homes. A portable Marantz PMD671 Digital Audio Recorder was used with lapel microphones in order that the equipment be as unintrusive as possible.

The data are fully digitised and transcribed using Praat, software which allows speech to text synchronization and spectrographic analysis. The transcriptions were spot-checked by a native Shetlander in order to ensure accuracy of transcription.

THE LINGUISTIC VARIABLES

Recall Britain's (2009:123) suggestion that dialect attrition affects 'every structural level of the language', and more specifically [START_REF] Tait | Whit is Shetlandic?[END_REF] claim that all aspects of the traditional Shetland dialect -phonetic, morphosyntactic and lexical -are being lost.

To test these claims, we target six variables, two from each area of the grammar. The variables are also differentiated in terms of national versus more local use in this Scottish context. Three of the variables are attested throughout Scotland while the Page 13 of 54 For review only. Confidential. Should not be cited.

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remaining three are more local to Shetland (e.g. [START_REF] Millar | Northern and Insular Scots[END_REF]). We designate these Scotland-wide and Shetland-specific. In this division we do not claim that Shetlandspecific features are unique to that area. Indeed, one of the variables to be analysed, th-stopping, is widespread in dialects worldwide. This categorisation simply rests on whether they are used throughout Scotland, or are more locally affiliated to Shetland. Britain (2009:123) describes attrition and death as 'the erosion of traditionally locally embedded dialect (including accent) feature or features in favour of one originating outside the community or from another group within the same community'. In each of these variables, there is variation between a local/traditional variant and a Standard (Scottish) English variant (i.e. from outside the community). Our analysis focuses on use of variable forms across the three generations of speakers. However, as has been shown in previous analyses (e.g [START_REF] Guy | Variation in the group and the individual: The case of final stop deletion[END_REF], Petyt 1980:188-90), these types of groupings may eliminate individual variation, particularly in cases of rapid obsolescence where 'speakers might show highly specific patterns of variable usage' or 'personal-pattern variation' (Dorian 1994:634, see also Johnstone 2000) rather than community shared norms documented more generally (e.g. [START_REF] Labov | Sociolinguistic Patterns[END_REF]). Thus, we further analyse the variables across individual speakers. We then investigate a number of linguistic constraints which may shed light on how the change proceeds.

Specifically we test a number of claims with respect to language obsolescence and the linguistic system: whether the pathway of attrition is characterised by overgeneralization or hypercorrection of language features (e.g. Cook, 1989: 235, Dorian 1994, Wolfram & Schilling-Estes, 1995), or more in line with 'orderly differentiation' (Weinreich, Labov & Herzog 1968), where even at the endpoint of change, there is retention of constraints [START_REF] Jones | From Somerset to Samaná: pre-verbal did in the voyage of English[END_REF]). In the latter case, 'it is probable Page 14 of 54 For review only. Confidential. Should not be cited.

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that language death does not differ in kind from other type of linguistic change, but in the speed with which structural changes occur and in the number of phenomena covered by the process' (Tsitsipis 1989: 117).

We now turn to the variables under analysis.

Lexical Variables Shetland specific: peerie

The first lexical variable is peerie and its variants small, tiny and little as in ( 1 This form has been around since the 1300s (OED s.v. ken) but is still commonly used throughout Scotland (e.g. [START_REF] Miller | The grammar of Scottish English[END_REF]). We include both discourse marker (2c) and lexical verb (2a, 2b) use. Figure 3 shows use of these variants across the 3 generations. The total number of contexts of use are also indicated on the graph to provide clear information on how robust (or sparse) the variable is across the 3 generations and the individuals (e.g. [START_REF] Guy | Variation in the group and the individual: The case of final stop deletion[END_REF]).

[FIGURE 3 ABOUT HERE] Figure 3 shows that for the three generations, peerie and ken are the majority variants, although the rates of these forms decrease across the age groups. There is a statistically significant difference among the three groups for both peerie (χ 2 = 22.89, p < 0.001) and ken (χ 2 = 167.96, p < 0.001). The difference between the old and middle groups is also statistically significant for both lexical items. Closer investigation revealed that these local forms were also the majority variants across all individuals in the middle-aged and older speakers. The younger speakers, in contrast, are different, as demonstrated in Figure 4.

[FIGURE 4 ABOUT HERE]

Figure 4 shows that for peerie, five of the younger speakers (Joanne, Valerie, Jake, Stewart and Lisa) have similar rates of use to the older generations with peerie the majority form. Mark and Rory use the form less and the three remaining speakers -Sean, Michelle and Erika -don't use the specifically Shetland form at all. In other words, the middle-aged and older speakers form a fairly homogeneous group, but the younger speakers are characterised by a high degree of inter-speaker variability and a local/non-local split in rates of use. The complete absence of use with three of the younger speakers makes it impossible to test for statistical significance, although the percentages clearly show the polarised use.

Ken provides an even starker contrast amongst the younger speakers: five of the speakers use it near categorically and the other five use the standard equivalent know near categorically.

We have examined a number of other lexical variables (e.g. big vs build, aye vs. yes). These pattern in the same way, with the older speakers demonstrating homogeneous patterns of use and the younger speakers demonstrating heterogeneous use.

However, these patterns of use may be unique to lexical variables, as these are said to be one of the most salient features of speech (e.g. Trudgill 1986: 24). We now turn to the morphosyntactic variables to see if the same patterns apply.

Morphosyntactic variables

Shetland specific: be perfect In the Shetland dialect, be can appear in perfect contexts where Standard English appears with have (e.g. [START_REF] Millar | Northern and Insular Scots[END_REF]:75, Melchers 2004a: 39, Pavlenko 1997, Robertson and Graham 1991:11) Be perfect is described as 'perhaps the most striking structural feature' of the Shetland dialect (Millar 2007:75) and its use is more productive when compared to Page 17 of 54 For review only. Confidential. Should not be cited.

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either the historical record (e.g. [START_REF] Kytö | Be/have + past participle: The choice of the auxiliary with intransitives from Late Middle to Modern English[END_REF] or present day varieties of English elsewhere (e.g. [START_REF] Tagliamonte | The grammaticalization of the present perfect in English: Tracks of change and continuity in a linguistic enclave[END_REF][START_REF] Wolfram | Delineation and description in dialectology: The case of perfective I'm in Lumbee English[END_REF]. It can appear with transitive and intransitive verbs, present and past tense, and with a variety of subject types. This has led to considerable debate surrounding its provenance -a reflex of a Norn substratum or remnant from the history of English (e.g. [START_REF] Melchers | We're aa da same here -but different, too": some notes on regional linguistic variation in Shetland[END_REF]:291, 2004a[START_REF] Pavlenko | The origin of the be-perfect with transitives in the Shetland dialect[END_REF]. However this question is beyond the scope of this research: crucial for our purpose is how this Shetland-specific variable patterns in apparent time 4 .

Scotland-wide: singular distal demonstrative yon

The second morphosyntactic variable we analyse is the use of yon in variation with that in singular distal demonstratives contexts, as in (4): Despite its appearance in the Middle English period, yon is first attested in Scots in the 19 th century (e.g. King 1997:168). It was said to indicate 'a person or thing at some distance in time or space, generally more remote than that.' (SND 1976:286). [START_REF] Melchers | This, that, yon: on 'three-dimensional' deictic systems[END_REF] suggests that in Shetland, it is part of a three-dimensional system, with yon used to signal emotional distance, demonstrated in its use with non-Shetland phenomena. In contrast, Robertson & Graham (1991:4-5) suggest that yon is 'used of things near in time and place, while dat [that] is used of things past or more remote'. Due to the debate over its semantic and pragmatic circumscription, in line with [START_REF] Sankoff | Weak complementarity: tense and aspect in Montreal French[END_REF], we include all singular distal demonstrative contexts.

Figure 5 shows the use of these two variables across the three generations.

[ INSERT FIGURE 5 HERE] Note first the use of be for have. The middle aged and older speakers have fairly similar percentages of use -62% and 54% respectively. The younger speakers have significantly lower rates: 25% overall. There is a statistically significant difference between the old/middle speakers and the young speakers: χ 2 = 83.57, p < 0.001.

Yon patterns differently. First, across all age groups, there are very low rates of use of the dialect form. However, yon has always been a marginal form in the history of English (e.g. Dons 2004:146), thus it is not surprising to see its infrequent use in present day Shetland. It might be more surprising that marginal form such as yon appears to be 'holding its own' across the generations. In fact, the younger speakers have higher rates of use for it than the older generations. This difference is statistically significant (χ 2 = 9.02, p < 0.05).

Again, we investigated further the use of these forms by individual speakers.

For be perfect, in the middle aged and older age groups, all speakers show variable use although the range is quite wide: 23-85% (This may be due to small Ns across some individuals). For yon, 19 of the 20 older speakers use it in variation with that, ranging from 4-10%.

Figure 6 shows how these variables pattern in the individual younger speakers.

[INSERT FIGURE 6 HERE]

Although there is more of a continuum of use with be perfect when compared to the lexical variables, the same basic pattern emerges: 5 of the speakers use the local form, and 5 hardly use it at all. Note that for the variable speakers, there is a wide Page 19 of 54 For review only. Confidential. Should not be cited.

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range of rates of use, ranging from the high 80s to the low 20s. Again these divergent rates may be the product of low numbers of contexts of use, but whatever the reason, they are in line with the range found in the older speakers. We further investigated a range of internal constraints on use attested in the literature, including subject type, transitivity and tense (e.g. [START_REF] Dannenberg | Sociolinguistic Constructs of Identity: The Syntactic Delineation of a Native American English Variety[END_REF][START_REF] Tagliamonte | Obsolescence in the English perfect? Evidence from Samaná English[END_REF]) across the older and middle-aged speakers and the younger variable speakers. Figure 7 shows one of these: use of the form by tense across the three generations.

[INSERT FIGURE 7 ABOUT HERE] Figure 7 demonstrates maintenance of constraints, where be is more likely to be used with the present tense than past. Across each age group, the difference is statistically significant. For the old speakers: χ 2 = 21.15, p < 0.001; for the middle aged speakers: χ 2 = 32.78, p < 0.001; for the young speakers: How do these younger variable speakers pattern in terms of constraints on use compared to the older speakers? We further divided the data into pronominal (4a) versus determiner use (4b). Figure 8 shows the results.

[INSERT FIG 8 ABOUT HERE]

Figure 8 shows that for the older and middle-aged speakers there are higher rates of yon in determiner contexts when compared to pronominals. The variable younger speakers, including Joanne and Valerie, the extremely prolific yon users, show the same constraints on use. We also note however, the low Ns for Valerie. Chi square tests comparing determiners and pronouns for each of the age groups (the low Ns for the young speakers make it impossible to test them individually) show that the differences are highly statistically significant in each group (old, χ 2 = 24.32, p < 0.001, mid: χ 2 = 88.42, p < 0.001, young χ 2 = 60.55, p < 0.001).

Phonetic/phonological variables

Shetland-specific: th-stopping

The next feature we analyse is the use of so called th-stopping (Wells 1982: 565-6) where <th> is realized as a stop rather than a fricative, as in (5). (Millar 2007:62). Melchers (2004b:42) goes as far as to say that it is '…categorical in Shetland accents, unless adapted to outsiders'.

Here we concentrate on contexts of voiced dental fricatives only 5 . Despite the fairly straightforward claims that /ð/ is substituted by [d], what we found in our data was a cline of variants, some more stop-like and others more fricative-like. We initially Page 21 of 54 For review only. Confidential. Should not be cited.

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divided the data into two main categories: stops and fricatives, with further divisions detailed below.

Scotland-wide: l vocalization Johnson and Britain (2007:295) amongst others, note that l-vocalisation, vocalisation of the phonetically 'dark' /l/ in syllable rhymes, is widespread in Southern British English. However, in Scots, a different type of l-vocalisation exists: syllable-final /al, ol, ul/ can be vocalized, as in ( 6) (e.g. Macafee 1983:38), resulting in orthographically realized forms such as a' for all, ba' for ball, and ca' for call. This type of l-vocalisation is no longer productive in Scots (e.g. Stuart-Smith, Timmins and Tweedie, 2007:232) with the result that in present day varieties it is restricted to a small lexical set. We include only those lexical items which were shown to vary.

Figure 9 shows how these two variables distribute across the generations.

[INSERT FIGURE 9 HERE]

For l-vocalisation, both older and middle-aged speakers have rates over 50% and there is actually a rise in use of the local variant in the middle-aged speakers. This decreases significantly in the younger speakers (Old compared to mid: χ 2 = 8.75, p < 0.01, young compared to old and mid: χ 2 = 32.11, p < 0.001). The younger speakers on the other hand, show a considerable decrease in use. Th-stopping shows a more gradual decrease in use although, again, the difference between the generations is statistically significant (Old compared to mid: χ 2 = 9.89, p < 0.01, young compared to Page 22 of 54 For review only. Confidential. Should not be cited.

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old and mid: χ 2 = 213.45, p < 0.001). What is probably more striking is the relative paucity of stop variants across even the middle aged and older speakers, despite the claims that this variant predominates in Shetland speech. In fact, when individual use amongst the middle aged and older speakers was investigated, 13 of the 20 speakers used the dental fricative, i.e. the standard form, as the majority variant.

Figure 10 shows how the younger individuals pattern across these variables.

[INSERT FIGURE 10 ABOUT HERE] l-vocalisation replicates a now familiar pattern: half of the speakers have high rates of the local form, and the others have virtually none. The lexical set in which lvocalisation was used in the older speakers was replicated in the younger variable speakers. In other words, no change in lexical constraints on use.

Th-stopping looks somewhat different when the younger speakers are considered individually. Although there are three speakers who are near categorical in their use of the standard variant, there is more gradient stratification amongst this younger cohort. In other words, a monotonic, step-wise pattern. Moreover, there is no evidence of the heightened rates of use with some speakers as exemplified in e.g. the use of yon. Another intriguing pattern emerges in a further breakdown of the data: in the stop category, two variants emerge: a dental stop and an alveolar stop. We now further divide the data to reflect this split in the stop-like variants. Figure 11 shows the results.

[INSERT FIGURE 11 ABOUT HERE]

Note the use of the dental stop and the alveolar stop in Figure 11. For the middle-aged and older speakers the hierarchy of use is dental fricative>dental stop>alveolar stop but for the younger speakers the hierarchy of use is reversed: dental fricative>alveolar stop>dental stop. We return to this point in the discussion.

DISCUSSION

Despite evidence for dialect loss in the British Isles, Britain (2009:123-124) points out that there have been very few studies of 'the attrition process in action, for example through Labovian apparent time studies of individual speech communities'. We believe that this apparent time study provides a good demonstration of that process, and allows us to assess more fully the claims regarding language attrition and death in one community in Shetland. Specifically, is there an 'abrupt replacement of one language -phonology, morphology and syntax as well as vocabulary -by another' [START_REF] Tait | Whit is Shetlandic?[END_REF]?

For all of the variables studied, whether lexical, morphosyntactic or phonetic/phonological, the results showed a decline in use of the local, traditional forms in favour of more standardised variants across the three generations of speakers. However, closer analysis of individual use within each age cohort demonstrated a generational divide: homogeneity in variable use in the middle-aged and older speakers, but heterogeneity amongst the younger speakers. In other words, sharp stratification in the younger cohort across most of the variables studied, with some of the speakers showing high rates of the local forms (in some cases even higher than the older generations) and the others having extremely high rates of the newer, standard variants. Thus, there is abrupt change and extreme dialect levelling with some speakers, as [START_REF] Tait | Whit is Shetlandic?[END_REF] suggests, but not with others. How can these results be explained?

Page 24 of 54 For review only. Confidential. Should not be cited.

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We suggest that these results may be indicative of rapid dialect attrition. Language change 'is predominantly gradual, and very frequently regular' (McMahon 1994:6), with 'small -and socially manageable increments -along the age continuum' (Chambers 2002:366). However, these results look much more like 'catastrophic' change, with the replacement, at least with some speakers, of one variety by another in the space of one generation. In these data, there are no 'semi-speakers' [START_REF] Dorian | The problem of the semi-speaker in language death[END_REF]) characteristic of gradual language shift. Such catastrophic changes normally occur in situations of extreme social disruption, e.g. invasions or massive immigrations, resulting in radical rearrangement of the internal structure of the community (e.g. [START_REF] Labov | Principles of linguistic change: Social factors[END_REF]:262, Campbell & Muntzell 1989). As detailed in the section on Shetland's social history, there have been changes in the demographic of Shetland over the past few decades with the advent of the oil industry, but no major upheavals of the type Labov, amongst others, describes.

Instead, we propose that social changes more generally may have precipitated these linguistic changes in Lerwick. Wolfram and Schilling-Estes (2006:118) state that 'As some of the more remote areas of the nation are open to intercommunication with the outside world, their distinctive language varieties, fostered in isolation and spoken by relatively small numbers of speakers, may be overwhelmed by encroaching dialects'. While in the past Lerwick may have been a closed community, it is now undoubtedly more open to external forces, in this case a more standard variety of the language. This is echoed in Extract 3 above from Mary (amongst many other speakers), who suggests that 'there's probably a lot more different influences now' with the children 'exposed to a huge range of different ways of speaking' which the older generations were not. This exposure may have produced a 'tip' [START_REF] Dorian | Language death: The life cycle of a Scottish Gaelic dialect[END_REF](Dorian :51, 1986) ) where 'a language which has been demographically highly stable for Page 25 of 54 For review only. Confidential. Should not be cited.

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several centuries may experience a sudden "tip" after which the demographic tide flows strongly in favour of some other language'. We suggest that this research may have pinpointed that change, with the tide flowing in favour of a more standardised variety in the younger speakers.

However, if the Lerwick dialect has reached this 'tip' what can explain the polarised use of forms amongst the younger speakers? Gender might be an obvious starting point in explaining the split in use, with the expectation that males will have higher rates of vernacular forms when compared to females (e.g [START_REF] Labov | Sociolinguistic Patterns[END_REF].

However, across the variables, three of the five females have higher rates of the local forms and only two of the five males. Thus, the variables do not pattern across established gender norms. Can the individual speaker profiles of the younger speakers provide any clues to the heterogeneous language use evidenced in this generation?

In general, the speakers share the same socio-cultural backgrounds (same agegroup, all parents from Shetland, live in Lerwick, attended same High School). The speakers were differentiated however, in terms of one potentially important indicator: time off the island. Jake, Stewart, Erica, Sean, Rory had spent no time off the island other than for short trips. Lisa and Mark have had one year off the island to study (but with regular trips back home during this time). Michelle, Joanne and Valerie all intended to leave in the next few months for study. It might be hypothesized that this may have an impact on their language use through, for example, face to face accommodation with speakers of other varieties of English while living on the mainland (e.g. [START_REF] Trudgill | Dialects in Contact[END_REF]). However, Lisa is one of the more dialect speakers, and Mark one of the most standard. Jake and Stewart use local forms, but the remaining three are very standard in their speech. Joanne and Valerie use very high rates of the local forms, while Michelle uses hardly any. Thus there is no simple correlation between time off the island and language use.

Another influencing factor on speech patterns might be affinity with Lerwick and Shetland more generally. Although the study did not set out to elicit specific information on attitudes (e.g. [START_REF] Llamas | Middlesbrough English: Convergent and divergent trends in a 'part of Britain with no identity[END_REF], the interviews contain many incidental comments which reveal speakers' opinions. Crucially, all of the younger generation spoke favourably of Shetland, expressing either a desire to stay on the island, or to return at some point. A typical example is from Rory: (Extract 5) And then when I finished school I thought I would take a year out and try and make up some money for actually goin' away but takin' the year out I gained full employment, and I was quite happy. Got my girlfriend up here and most of my family, a lot of my mates so I-I find it quite difficult to go down South. I think I would get homesick, so decided to stay where I was for the moment. This affinity with Shetland is at odds with his speech patterns: Rory is one of the most standard speakers in the sample.

Another hypothesis might be different social networks within this age group (e.g. [START_REF] Milroy | Page 39 of 54 For review only[END_REF]. Strikingly, the tightest network, Joanne, Valerie and Michelle, who declared themselves 'best friends,' exhibited stark differences in dialect use.

Valerie and Joanne had the highest use of traditional forms across all variables, while Michelle had the lowest. Moreover, while 'dialect death can be gradual and (to the speakers at least) virtually imperceptible' (Hinskens, Auer & Kerswill 2005:11), the younger speakers are very aware of these differences, as highlighted in the extract from Joanne in Extract 6:

(Extract 6) And with my pals, they were sayin' about me and Valerie, she 's just-me and her's just likely the broadest ains of the lot of wis.

Cos my other pals, they bide in Lerwick and their mother and father is fae... Shetland but they just dinna hae the accent at a'.

Gloss: And with my pals, they were saying about me and Valerie, she's just-me and her are just probably the broadest ones of the lot of us. Cos my other pals, they live in Lerwick and their mother and father are from... Shetland but they just don't have the accent at all.

Thus none of the typical influences on language use -gender, networks, attitudes, exposure to other varieties -can explain the split in the younger speakers 6 . These non-correlations serve to highlight the 'complex array of factors which come into play, ranging from a variety of situational contexts to the proactive personal initiative of speakers in the construction of a linguistic self" (Wolfram 2002:766) in the face of rapid language attrition. Uncovering this complex array of factors may require more in-depth ethnographic study of the community in future research (e.g Mendoza-Denton 1997). Whatever the reasons for the split in this younger age group, the results across the individuals demonstrate a highly unusual pattern in terms of language change. [START_REF] Hill | The social functions of relativization in obsolescent and nonobsolescent languages[END_REF] suggests that the only difference between language change and language death is the speed at which it proceeds. These results suggest otherwise, with a severe break in community norms with half of the younger speakers in the space of one generation. Wolfram (2008:1) poses the question 'what sociolinguistic responses might be adopted by islanders who suffer the loss of an emblematic language variety?' In this case, the answer is 'very different responses'.

While the reasons for the patterns of use across the individual speakers cannot currently be fully explained, can the linguistic details of change tell us anything about the processes involved in dialect attrition? As discussed above, the younger speakers conform to two broad patterns: variable use of dialect features vs. near categorical use of Standard (Scottish) English features. Beyond this broad categorisation, what can analysis of the linguistic details of use reveal? Dorian (e.g. 1994) suggests that in the process of rapid language attrition, a system of 'personal pattern variation' [START_REF] Dorian | Varieties of variation in a very small place: Social homogeneity, prestige norms, and linguistic variation[END_REF] develops: severe intraspeaker variability with little or no correlation with social or linguistic factors, or to other members of the community. Christian, Wolfram and Dube (1988:79) find that 'orderly progression of change and variation is not quite so neat as some variationists…would have us believe, particularly at the endpoints of the change'. Wolfram & Schilling-Estes (1995:711) also find that variables at the end point of change will exhibit upheaval in the 'natural ordering of constraint effects'. In contrast, linguistic features on the verge of extinction may continue to retain systematic linguistic conditioning [START_REF] Jones | From Somerset to Samaná: pre-verbal did in the voyage of English[END_REF]. The rapidity of change with one group in the younger speakers makes it difficult to analyse potential endpoints of a change: they have simply adopted the standard forms more or less wholesale. Further analysis of the variable younger speakers in these data, however, reveal shared linguistic constraints across a number of variables, arising from transmission and maintenance of linguistic constraints from previous generations.

There is no chaotic retreat of the system, but instead orderly differentiation and maintenance of constraints of the type found in language change more generally.

A second important finding is that while constraints were similar, the analysis revealed heightened rates of use in the younger speakers with some variables, most strikingly demonstrated by the use of yon 7 . The question is why? Britain (2009:133) Page 29 of 54 For review only. Confidential. Should not be cited.

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points out that 'some dialects under the potential threat of attrition, particularly isolated rural ones…appear to resist erosion and occasionally change in ways diverge from the incoming innovation'. This was first demonstrated in Labov's seminal 1963 study of Martha's Vineyard and more recently in the moribund dialect of Smith Island (e.g. Schilling-Estes 1997, 2000;[START_REF] Schilling-Estes | Alternative models for dialect death: Dissipation vs. concentration[END_REF], where the dialect spoken is becoming more, rather than less, divergent with certain variables.

Wolfram & Schilling-Estes describe these patterns as a concentration model in which 'structural distinctiveness is intensified among a reduced number of speakers' (Wolfram 2002:769). Some forms take on 'socio-symbolic meaning' (Schilling-Estes and [START_REF] Schilling-Estes | Convergent explanation and alternative regularization: Were/weren't leveling in a vernacular English variety[END_REF], Schilling-Estes 2000), resulting from an increasing sense of solidarity amongst the islanders in the face of potential attrition. A concentration model may be signalled by both higher rates of use of particular features, and also different patterns of use in some cases, demonstrated, for example, by the remorphologisation of was and were (Schilling-Estes & Wolfram 1994). In the Shetland data, although the rates were higher with some younger speakers, the structured heterogeneity evidenced in the older age groups remained intact. In other words, these speakers are not using the forms hyperdialectally (e.g. Trudgill 1986:75) -the extension of the local form to 'linguistic contexts where it was not previously used' (Britain 2009: 135) -but simply using the local forms at higher rates. This may be a form of statistical rather than structural hyperdialectalism (e.g. [START_REF] Wolfram | American English: dialects and variation[END_REF] on the part of the younger dialectal speakers in their resistance strategies. However, in many cases 'these resistance strategies can sometimes be relatively short-lived… often appearing as a last gasp before final attrition' (Britain 2009:133-4) Page 30 of 54 For review only. Confidential. Should not be cited.

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The one variable which stands out from the cohort in terms of patterning of use is th-stopping. First, none of the speakers showed remarkably high rates of use: even the speakers with the highest rates used the stop variants at rates similar to, or lower than, the older speakers. In other words, no evidence of statistical hyperdialectalism. Second, its use is best characterised as gradient stratification amongst the younger cohort, with intra-rather than inter-speaker variation. Third, and perhaps most important, the non-standard variant used differed according to generation: in the majority of cases, the older speakers used a dental stop, while the younger speakers used an alveolar stop (see Smith, Durham and Holmes, in progress for a detailed analysis of this variable). This variant might be interpreted as intensification of dialect variants as in the concentration model, or structural hyperdialectalism. This would be unexpected however, given that all the younger speakers participate in this use, even those who are very standard with all other variables analysed. Instead, the explanation may again lie in moribund dialect features. Melchers (2004b:45) points out that 'the articulatory setting in Shetland speech is generally fronted', and the Scandinavian substratum is the suggested source 8 . In this case, the dental variant may be the result of substratum influence and its decline across the generations may signal a decline in influence of the substratum.

The use of the alveolar stop in the younger speakers is not interpreted as intensification of dialect forms but simply that the younger speakers are turning to an already available phoneme in their phonological inventory as the influence of Scandinavian features wane.

Taken together, these results provide support for Trudgill's (2002:41) observation that 'In the process of dedialectalism…dialect variants disappear at different speeds'. The type of linguistic variable may be implicated in this, with our Page 31 of 54 For review only. Confidential. Should not be cited.

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results pointing to a distinction between dialect and accent features (e.g. [START_REF] Petyt | How "worn out" or "corrupted" was Shetland Norn in its final stage?[END_REF].

It also demonstrates that some variables such as yon may be subject to 'sociolinguistic focussing' (Wolfram 2002:780), signaled by their extremely high rates of use. In other words, they become symbolic, and hence used as 'acts of identity' (Le [START_REF] Page | Acts of Identity: Creole-based approaches to Language and Identity[END_REF] in the portrayal of 'Shetlandness' or indeed 'Scottishness' in the face of potential external threat. Others may not have such symbolism and simply quietly slip away through time 9 .

CONCLUSION

This study provides the first quantitative analysis of language change in Lerwick, Shetland and highlights the complexities of obsolescence where decline in use of forms 'cannot be reduced neatly to a universally predictable regression slope' (Wolfram's (2002:766). The results show dramatic dialect shift in the space of three generations which leads us to suggest that the dialect may be facing rapid dialect attrition. However, as Hoenigswald (1989: 353) suggests, 'demise can be predicted, it seems, only at a terminal stage', where there are, for example, only a few remaining speakers of the dialect in question. Therefore, to paraphrase Mark Twain, reports of dialect death may be greatly exaggerated. The only way we can be sure our interpretation is 'right' is to return to Lerwick in 30 years time to see if we can still hear peerie, I'm no been there and /d/at wife /d/ere. 1

Acknowledgements

We gratefully acknowledge the support of the Economic and Social Research Council for award number 000-22-2052. We would like to thank three anonymous reviewers for their extremely helpful comments. We would also like to thank Sophie Holmes and Andrew McFarlane for help in coding of data. Thanks are also due to our three invaluable on-site fieldworkers, Mary Blance, Laureen Johnson and Douglas Sinclair, and Doreen Waugh for help with dialect transcription issues.

We dedicate this article to the speakers of Lerwick, Shetland.

2 One reviewer notes that 'in a minor sort of way Lerwick speech is an urban variety'.

3 Although one reviewer comments that this may be a rather exaggerated view of this lexical item.

4 All perfect tense contexts were included. Contexts of contracted 's as in It's been a good shop to work in were excluded as it is impossible to establish whether 's is is or has.

5 In casual speech, /ð/ is frequently modified from its full form. In addition to stoplike realisations, it may also become nasalized, lateralized, or omitted all together.

For the purposes of this study, we concentrate only on those cases where the contexts were realised as a dental fricative or a stop. All other variants were excluded.

6 Schooling is traditionally cited as a cause of dialect loss. As pointed out by many of the older generations, they would have been 'flitten on badly' for speaking dialect in class. However, for the younger generation, there have been a number of dialect awareness programmes, particularly in primary schools in Shetland and a policy directed change in attitude towards use of the vernacular in the school setting. Hence it would be unlikely that the change in dialect use is due to schooling practices.

7 This might be interpreted as 'dialect performance' (e.g. [START_REF] Coupland | Dialect stylization in radio talk[END_REF][START_REF] Schilling-Estes | Investigating 'self-conscious' speech: The performance register in Ocracoke English[END_REF], an 'exaggerated' version of their vernacular speech produced for the microphone. However, instead of demonstrating the switches normally associated with such 'hyper-performance' in the sociolinguistic interview (e.g. Schilling-Estes 1998) the speakers who used the forms at high rates did so throughout the hour long recording.

Journal of Sociolinguistics

  sociolinguistic time-depth analysis of this variety which would allow us to assess the extent of change in the dialect over the past 100 years. It is to this question that we now turn.DATAFor this study, we chose to focus on the main town of Lerwick (Figure2), the commercial and industrial centre of Shetland, as it is often pinpointed as the locus of most rapid linguistic change (e.g.[START_REF] Tait | Whit is Shetlandic?[END_REF]:8, van Leyden 2004).[FIGURE 2 ABOUT HERE]It has a population of approximately 7,500 (although half of the islands' 22,000 residents live within 10 miles of the town) and is the UK's northernmost town, being closer to Bergen in Norway than to the city of Aberdeen. Since the late 1970s, inmigration from the surrounding outer isles to Lerwick has been common, in addition to a number of incomers from mainland Scotland and England brought by the reorganisation of the local government structures and the oil industry. Unemployment is well below the national average. As with most other areas, the biggest employer is the service industry, although fishing is still an integral part of the Lerwick way of life. The 2001 census shows that approximately 8% of the population are in Class 1 of the Registrar General's Social Class scale i.e. professionals: the remaining population is spread fairly evenly between Classes 2-5, including skilled non-manual occupations and unskilled labour. It has one high school with approximately 900 pupils, and five primary schools.

  in the dialects spoken on the Shetland Isles, brought about by Page 11 of 54 For review only. Confidential. Should not be cited. Journal of Sociolinguistics little contact in previous years between the islands dotted around the archipelago.

  ): 1. a. We first bade in Union Street, when I was peerie. (Doreen, old) b. It seemed like quite far when we were little. (Michelle, young) c. When I was small, we were at my granny's a lot. (Rory, young) Although its etymology is uncertain (the OED describes it as 'probably < the unattested Norn reflex of the early Scandinavian word represented by Swedish pirig…'), it is first attested in writing at the beginning of the 19 th century. van Leyden (2004:27) suggests that in present day Shetland it is 'employed as a kind of positive shibboleth to emphasise …Shetland loyalty' 3 . Scotland-wide: ken Use of ken for know as in (2) is another stereotype, although this time a national, rather than specifically Shetland, one. 2. a. You'd sit in and you'd ken a' the tunes. (Lisa, young) b. They kent over well what I was done (Jim, middle) c. Du know, sometimes you go into a shop here, du kens…(Bob, old)

  , as demonstrated in (3): 3. a. I'm no been in Imelda's in a start. (Joanne, young) b. By the time you've come home... (Joanne, young) c. Funnily enough, they were been coopers as well. (Brian, old) d. I think he'd been in intelligence. (Brian, old)

  4. a. I was just like 'What's yon?' (Joanne, young) b. Still actually hae yon BMW that I met the girlfriend with. (Stewart, young) c. Buy another ain and get bored of that ain and sell it. (Stewart, young) d. Couldna mind a thing that she'd done that morning. (Helen, middle)

  χ 2 = 35.05, p < 0.001. A number of other constraints showed the same patterns of use (see Smith & Durham in progress). The results for individual younger speakers use of yon differ from the older and middle-aged groups. Only 4 of the speakers use the form to any extent -Valerie, Joanne, Lisa and Stewart. The 6 remaining speakers show (near) categorical use of that (Rory and Mark have one token each of yon). Second, Valerie and Joanne have extremely high rates of yon: 36%. This is far in excess of the frequencies of use found for the older generations.

  5. But I mind one particular day /ð/at I was bouncing in /d/e crib, and it broke. (Agnes, old) Although there is debate regarding its etymology (see e.g. Melchers 2004b:42, Barnes 1998), it is claimed that the use of [d] and [t] for /ð/ and /θ/ in word initial and medial positions 'is a general feature of Shetland speech' (van Leyden 2004:20), especially amongst 'traditional dialect speakers'

  6. a. So we /a/ gied down there. (John, old) b. What do you c/al/ it? (Valerie, young)

FIGURESFigureFigure 4 :Figure 6 :

 46 FIGURES

Page 7 of 54 For review only. Confidential. Should not be cited. Journal of Sociolinguistics Extract

  2: Bob, age 72 (Bob) I was speakin' earlier on aboot, du kens, age groups. I don't thinkthe young ains at school now is speaking the Shetland dialect or the Lerwick dialect. Maybe-maybe there's still a touch o' dialect throughoot the country but I don't think youngsters in Lerwick now is speakin' the dialect or whatever you think would be the dialect and er-I mean, I-I can see it to a

	certain extent with wir own family. Du kens, it-it's no, certainly no separate
	now. (Interviewer) Du'll ken with the younger ains yeah. No, no. And I
	noticed like I don't know if du's noticed with your ains, your-boys and your
	daughter-in-law when they're gettin' onto the bairns, will they go into
	English? (Bob) They go into English. That's right. Yeah, that's right. Th-
	they go into-whereas we-we were, when we were bairns we just spoke
	away-. (Interviewer) They'll 'talk'. They'll give them a telling off in
	English!
	Gloss: (Bob) I was speaking earlier on about, you know, age groups. I don't
	think-the young ones at school now are speaking the Shetland dialect or the
	Lerwick dialect. Maybe-maybe there's still a touch of dialect throughout the
	country but I don't think youngsters in Lerwick now are speaking the
	dialect or whatever you think would be the dialect and er-I mean, I-I can
	see it to a certain extent with our own family. You know, it-it's no, certainly
	not separate now. (Interviewer) You'll know with the younger ones yeah.
	No, no. And I noticed like I don't know if you've noticed with your ones,
	your-boys and your daughter-in-law when they're getting onto the children,
	will they go into English? (Bob) They go into English. That's right. Yeah,
	that's right. Th-they go into-whereas we-we were, when we

were children Page 8 of 54 For review only. Confidential. Should not be cited.

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We thank an anonymous reviewer for drawing attention to this research.

The results from this research may lend themselves to an entirely different -and apparently more upbeat -interpretation. Instead of dialect attrition, the younger speakers are bidialectal (e.g.Cornips and Hulk, 2006:355) asMelchers (2004: 37) has already suggested. We are currently exploring this possibility in further research(Smith 2007-9)

Journal of Sociolinguistics


Annika Elisabeth Lindblom
email: annika.lindblom@ki.se

Peter N Robinson
email: peter.robinson@charite.de

Bioinformatics for Human Genetics: Promises and Challenges

Keywords: Bioinformatics, HVP, genetics, ontology Bioinformatics, HVP, genetics, ontology

Recent developments, including next-generation sequencing (NGS), bio-ontologies and the Semantic Web, and the growing role of hospital information technology (IT) systems and electronic health records, amass ever-increasing amounts of data before human genetics scientists and clinicians. However, they have ever-improving tools to analyze those data for research and clinical care. Correspondingly, the field of bioinformatics is turning to research questions in the field of human genetics, and the field of human genetics is making greater use of bioinformatic algorithms and tools. The choice of "Bioinformatics and Human Genetics" as the topic of this special issue of Human Mutation reflects this new importance of bioinformatics and medical informatics in human genetics. Experts from among the attendees of the Paris 2010 Human Variome Project symposium provide a survey of some of the "hot" computational topics over the next decade. These experts identify the promise -what human geneticists who are not themselves bioinformaticians stand to gain -as well as the challenges and unmet needs that are likely to represent fruitful areas of research.

Introduction

Computers have been used for decades to get practical work done in the field of human genetics for the benefit of patients and the advancement of science. Computer algorithms and programs for linkage analysis have formed the foundation of most disease-gene discovery projects, and databases of clinical findings have been widely used to support diagnostic decisions in the fields of dysmorphology and general human genetics. A number of trends and recent developments, including next-generation sequencing (NGS), bio-ontologies and the Semantic Web, and the ever-increasing role of hospital information technology (IT) systems and electronic health records, are confronting human genetics researchers with growing amounts of information that can be difficult to interpret. However, the rapid development of cutting-edge bioinformatic tools is allowing clinicians and scientists to analyze these data more efficiently and accurately, with the end result being improved clinical care and research. This special issue of Human Mutation reflects the views of a number of international leaders in bioinformatics as applied to human genetics. Many were recruited from among the esteemed attendees of the May 2010 Human Variome Project meeting at UNESCO in Paris (Kohonen-Corish et al., 2010). There are now so many areas in which human genetics stands to profit from improved computational support, that it would be impossible to include all relevant topics in a single special issue. The articles presented aim to identify the promise -what human geneticists who are not themselves bioinformaticians stand to gain -as well as the challenges and unmet needs that are likely to represent fruitful areas of research in the not-too-distant future.

Standards

One of the major challenges in biomedical informatics is to overcome the lack of standards for the collection, manipulation and transmission of information in biomedical research. The need for standards is especially pressing in the field of human genetics with its focus on DNA sequences and descriptions of rare phenotypic abnormalities that tend not to be adequately represented in general-use biomedical vocabularies such as SNOMED.

Ontology is the philosophical discipline which studies the nature of existence and aims to understand what things exist in the world, how these things can be divided into categories according to distinguishing characteristics, and how these categories are related to one another. In computer science, the word ontology is used with a similar meaning, to refer to a structured, computable representation of knowledge within certain domains, such as science, government, industry, and healthcare. Computationally, an ontology provides a classification of the entities within a domain, each associated with a human-readable term and often additional synonyms and other information.

Furthermore, an ontology specifies the semantic relationships between these entities.

Thus, an ontology can be used to define a standard, controlled vocabulary for a scientific field as well as to enable reasoning and inference across this knowledge to drive new hypotheses and further research. One of the most widely used ontologies is the Gene Ontology (GO), which provides structured, controlled vocabularies and classifications for several domains of molecular and cellular biology and is structured into three domains, molecular function, biological process and cellular component [START_REF] Ashburner | Gene Ontology: tool for the unification of biology. The Gene Ontology Consortium[END_REF]. GO has been extensively adopted by the molecular biology community as a kind of lingua franca for describing the biological function of gene products in humans and model organisms using a consistent and computable language. Although the GO was originally developed primarily to provide a means for integration, retrieval, and computation of data, it is now commonly used to help understand the results of high-throughput expression profiling experiments, network modeling, analysis of semantic similarity, and many other applications.

Clinical medicine and research in human genetics have not yet incorporated ontologies and information technology to the same extent. Consider for a minute how useful it would be if the genotype and phenotype data for all published studies on genetic disorders over the last several decades had been recorded in a standard fashion in a central database in the same way as molecular geneticists have made sequence data freely available. The development and widespread adoption of a number of standards will be required to achieve this in the next decades.

Victor McKusick provided a classic description of the challenges of the nosology of genetic disease in 1969, which in many ways boils down to a dispute between "lumpers" and "splitters" (McKusick, 1969). This debate is impossible to resolve because, among other things, of the numerous instances of "many from one" (multiple phenotypes from different mutations in the same gene) and "one from many" (the same

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phenotype from mutations in two or more separate genes) [START_REF] Mckusick | Mendelian Inheritance in Man and its online version, OMIM[END_REF]. This means that no one classification scheme is likely to satisfy all needs. There are currently two important schemes that should be widely adopted (and computational links will need to be made between them). The first naming scheme for genetic diseases which was developed over decades by Victor McKusick and colleagues at Online Mendelian Inheritance in Man (OMIM) has long been used in the research community.

Ada Hamosh and colleagues provide an overview of the logic behind the OMIM nomenclature in this issue [START_REF] Hamosh | A new face and new challenges for Online Mendelian Inheritance in Man (OMIM(R))[END_REF]. Although the OMIM nomenclature has been widely adopted in the research community, it has not been used extensively in hospital IT systems.

Orphanet, which is the most important portal especially for clinical aspects of rare disease (http://www.orpha.net), offers information for professionals and the general public on rare diseases, orphan drugs, expert centers, clinical trials, patients' organizations, and other related topics. The International Classification of Diseases, version 10 (ICD-10) is the international standard diagnostic classification of the World Health Organization (WHO) for epidemiological and health management purposes as well as for clinical use. Only about 240 hereditary diseases have a specific code in the ICD 10, and no systematic classification scheme was used. Therefore, Ségolène Aymé and colleagues at Orphanet are developing a clinically oriented nosology of rare diseases that will be adopted by the ICD-11, and thus is likely to have an enormous influence on human genetics simply by making the great majority of rare diseases visible for statistics and hospital IT systems that make use of ICD-11. OMIM provides separate identifiers for each of the distinct subtypes of heterogeneous diseases (for instance, there are identifiers for each of the forms of long QT syndrome, which are caused by mutations in distinct genes but characterized by highly similar phenotypes).

On the other hand, the Orphanet nosology will generally provide a single identifier for such syndromes, since this is generally more useful in a clinical setting. Thus, it seems fair to regard Orphanet as the lumpers, and OMIM as the splitters within the field of nosology for human genetics.

For many kinds of research in human genetics, it is important to record the phenotypic abnormalities in addition to the specific disease entity or diagnosis. Human genetic diseases can be clustered on the basis of their phenotypic similarities, and it has been proposed that the clustering reflects true biological relationships of the genes involved [START_REF] Oti | The modular nature of genetic diseases[END_REF]. Several mutually incompatible nomenclatures are in use to describe phenotypic abnormalities (signs, symptoms, laboratory and imaging findings) in the field of human genetics, including those of the commercial programs London Dysmorphology Database and POSSUM. One of the guest editors of this issue has led the development of the Human Phenotype Ontology [START_REF] Robinson | The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease[END_REF], which currently provides over 10,000 terms to describe individual phenotypic abnormalities and over 50,000 annotations to hereditary diseases. The HPO owes an enormous debt to OMIM, from which much of the initial information in the HPO was derived. Continued development of the HPO, which is freely available to all, is being conducted with the help of a number of groups including OMIM, Orphanet, and other interested clinicians.

The further involvement of experts from the community is highly welcome. The HPO has been adopted by the International Standard Cytogenomic Array (ISCA) Consortium, and The third kind of standard that is absolutely essential for human genetics regards the nomenclature of mutations. The Human Genome Variation Society (HGVS) has developed a nomenclature for mutations that is now required in this and in many other journals (www.hgvs.org/mutnomen). In this issue, den [START_REF] Den Dunnen | LOVD v.2.0: Facilitating simple creation of gene sequence variation databases[END_REF] describe an extension of this standard for several kinds of complex mutation. These standards deserve broad support in the community for reporting and publishing scientific findings.

Finally, there is currently no widely accepted way of reporting all sequence variants found in an exome or genome. The recently presented Genome Variation Format (GVF), which uses terms from the Sequence Ontology to describe genome variation data [START_REF] Reese | A standard variation file format for human genome sequences[END_REF], seems to have the potential to meet this need.

Biomedical ontologies and standards exist to serve integration of data, their conditions of success can usefully be compared to those of a telephone network. The utility of an ontology or of a telephone network is critically related to the number of users. The more datasets are annotated to a given set of interoperable ontologies, the higher the value not only of the ontologies but also of the annotated data, which can now be integrated and compared with ever more comprehensive datasets [START_REF] Pelak | The Characterization of Twenty Sequenced Human Genomes[END_REF]. This has been one of the many reasons for the continued success of the Gene Ontology, which in 2000 comprised about 2500 terms and was used to annotate only yeast, mouse, and fly genes, and has subsequently grown and matured such that it now contains over 33 thousand terms and is used to annotate all major model organisms. NGS is revolutionizing biomedical research in many ways, not least by the ability to resequence the great majority of coding exons in the human genome by hybridizationbased enrichment techniques followed by NGS analysis, a procedure which has come to be called exome sequencing. Multiple novel disease genes have been discovered following the pioneering work of Ng et al. (2009), and it is widely expected that exome sequencing and related technologies will dramatically accelerate the pace in the discovery of the disease genes for the estimated 3,750 Mendelian disorders whose molecular basis is currently unknown. Presumably, our understanding of the genetic causes of oligogenic and polygenic disorders will also benefit in a similar way.

In 1965, Gordon Moore described a trend in computing hardware, according to which the number of transistors on a chip roughly doubles every two years. A similar trend is likely to apply to DNA sequencing technologies, and the primary challenge in diagnostics in human genetics is likely to shift from the mere identification of sequence variants to the interpretation of the variants. Bioinformatics plays a key role at all levels of data analysis and interpretation. In addition to alignment of short reads to the reference genome and variant calling [START_REF] Li | A survey of sequence alignment algorithms for next-generation sequencing[END_REF], a number of integrative analysis procedures have been developed to deal with the primary challenge in the medical interpretation of exome data, which is simply making sense of the sheer number of variants found in each individual patient. It has been surprising to discover just how common sequence changes with presumably deleterious effects on protein function are in a typical human genome. For instance, it has been reported that on average, each genome carries 165 homozygous protein-truncating or similar variants in genes representing a diverse set of pathways [START_REF] Pelak | The Characterization of Twenty Sequenced Human Genomes[END_REF]. This means that the mere finding of a sequence variant that appears to be a pathogenic mutation cannot be taken as proof that the change is causally related to the disease being investigated.

Groups involved in exome sequencing have developed a number of strategies to deal with this. The "intersection" approach searches for rare, potentially deleterious variants affecting the same gene in multiple unrelated individuals with the same disease [START_REF] Ng | Exome sequencing identifies the cause of a mendelian disorder[END_REF] Family-based approaches use linkage analysis in addition to NGS analysis in order to narrow down the candidate region in families [START_REF] Volpi | Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene[END_REF]. The group of one of the guest editors of this special issue has developed procedures to perform linkage analysis directly in the exome sequence data of individuals affected by autosomal recessive or X-linked diseases by using a Hidden Markov Model approach to identify regions identical by descent in all affected individuals [START_REF] Krawitz | Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome[END_REF].

Recently, it was shown that exome sequencing can be used to identify de novo mutations in sporadic cases of mental retardation [START_REF] Vissers | A de novo paradigm for mental retardation[END_REF].

It is to be expected that new algorithms and analysis procedures will continue to be developed for making sense of exome data, but it is still unclear how to bring exome sequencing into routine clinical care outside of big research centers for human genetics in the near future because, among other things, of the complexity of the computational analysis required for this type of data. It seems more likely that targeted resequencing of panels of genes known to be involved in genetically heterogeneous disorders such as hereditary deafness or cardiomyopathy will be the first widespread application of NGS technologies in routine molecular genetic diagnostics. One key point for any technology in which variants in tens, hundreds, or thousands of genes are interrogated is the use of databases to help in interpretation and reporting. In addition to centralized registries for mutations and phenotypes, which will be covered below, specialized software for analyzing and reporting variants will be needed to keep up with the increased demands of NGS data.

Human Genetics and Personalized Medicine

One of the articles in this issue brings up the urgent need of placing human genetics in the perspective of personalized medicine [START_REF] Ullman-Culliaire | Bioinformatics in implementation of human variants into clinical health care[END_REF]. In fact, it is the rapid and immense progress in the field of human genetics in combination with an equally rapid development in bioinformatics which calls for the establishment of electronic health records, a functioning health care IT and communication with genetic/genomic information on an individual level to be able to offer optimal health care.

In contemporary medical practice, a patient's genetic/genomic data is becoming ever more important for clinical decision making, in disease risk assessment, diagnosis, and drug therapy. The electronic health record will typically need to include a segment of key elements for the individual, including phenotypic and other clinical data, previous and current diagnoses, previous and current medication, accessibility to genetic data such as genetic test results from individuals, encoded using standard formats discussed in the articles [START_REF] Taschner | Describing complex sequence variants by extending HGVS sequence variation nomenclature[END_REF]. For some fields including especially oncology, there is a need to distinguish between tissues from which samples have been taken. This is because not only constitutional genetic information, but also genetic information related to malignant tissues are of extreme importance for clinical decision making. The amount of information necessary today for optimal decision making requires computer-based management of data rather the traditional paper based system not only for security but also because of the complexity of medicine today. The electronic management will all the use of tools to improve patient safety such a triggering for guidelines to choose the right drug and avoid adverse drug effects such as patient allergy or drug interaction, or by receiving pharmacogenetic-pharmacogenomic information important for drug dosing, efficacy or toxicity. The rapid development of techniques in the area of genome analysis has facilitated identification of new pharmacogenomic biomarkers that can be used as predictive tools for improved drug response and fewer adverse drug reactions. Such biomarkers mainly originate from genes encoding drug-metabolizing enzymes, drug transporters, drug targets and human leukocyte antigens (Ingelman-Sundberg et al., 2011).

Electronic Patient Records and Hospital Information Technology

An electronic health record will also facilitate control of clinical work-flows and interaction with genetic/genomic, pharmacogenetic/genomic databases, and databases to be used for research purposes. BioGrid Australia, described in this issue ( , 2011), is an example of this type of warehouse database to be used for research. It is a federated data linkage and integration structure and integration infrastructure that uses the internet to enable patient specific information to be utilized for research from multiple databases of various types, from a range of diseases and across more than 20 health services, universities and medical institutes. There is an open access for any researcher to view available data. Data is transported every night from the local databases into BioGrid and researchers only have access to de-identified data.

Research can also be done using electronic health records directly, in particular when these are in communication with databases with genetic/genomic information. There is much to be gained by having as few databases as possible and if scientific studies used clinical information from the primary health records it would be safer, cheaper and give more accurate data. It will, however, require that data is requested in a systematic and ethically controlled fashion and that data is delivered to researchers in a de-identified format. Medical records in general, electronic or not, harbor most information relevant for one individual. However, not all information is relevant, it is not structured, and typically it is divided in many different caretakers' registers. A nationwide system of electronic health records with access from all registered health care services within the country (and in the future perhaps also outside the country) would serve the patient best. This database should then be able to communicate with all necessary databases, such as those with genetic-genomic information for individuals. If for practical reasons this is not possible, all existing health record electronic systems should be able to communicate with each other and all other necessary databases. In contrast to general medicine, clinical genetics today mostly uses electronic health care records. Data included is normally limited to what is relevant in clinical genetic testing related to inherited disease and there is not often a systematic description of phenotypic and clinical data. For instance, if a woman with a family history of breast cancer is being referred for BRCA testing, there is no need for any other information and thus, the only data will be the resulting BRCA status. The extreme development in genetics and bioinformatics forced clinical genetics to deal with ever increasing amounts of data and to use bioinformatics and databases such as OMIM, ORPHANET and LSDBs over the internet on a routine basis in clinical care. In contrast to general medicine which treats individuals, clinical genetics deals with whole families to diagnose, treat and prevent disease and thus for diagnosis or interpretation of test results one cannot always rely on phenotypic/clinical data from a single patient but also from his or her relatives. This has created a need for various bioinformatic tools to facilitate the diagnosis of genetic disease such as CGEN and SISA (Möller et al., 2011a;Möller et al., 2011b) and also the Danish for familial colorectal cancer used for diagnosis and clinical care/prevention platform (Bernstein et al., 2011).

The Semantic Web for Human Genetics

The World-Wide Web (WWW) grew out of proposals by Tim Berners-Lee in 1989 and 1990 to create a web of hypertext documents using hyperlinks to allow users to browse between documents located on different web servers. Current Web browsers can easily parse Web pages in order to create a nice visual layout and links to other Web pages, but they have no reliable way of recognizing the meaning of the Web pages they present, much less of roaming the net to harvest the information needed to answer a question. The Semantic Web was proposed by Berners-Lee in 1999 as a framework in which computers are capable of analyzing the meaning --the semantic content --of the data on the Web in order to act as "intelligent agents." The WWW Consortium (W3C) has created languages for the Semantic Web that are specifically designed as a sort of semantic markup language for data: RDF, RDFS, and OWL. Especially OWL has also come to play an important role as a language for bio-ontologies.

It seems certain that the role of the Semantic Web in biomedical research and in human genetics will increase in the next decade. To harness the full power of the Semantic Web in a similar way for human genetics, formal representations of biological, genetic, and medical knowledge in the form of ontologies, annotations, and knowledge bases will need further development, and tools and applications for nonspecialists will need to be implemented. One interesting example of what is possible with Semantic Technologies for biomedical research is the Cell Cycle Ontology, for which tools have been developed for browsing, visualizing, advanced querying, and computational reasoning about cell cycle-related molecular network components [START_REF] Antezana | The Cell Cycle Ontology: an application ontology for the representation and integrated analysis of the cell cycle process[END_REF].

Prioritization of Sequence Variants

Deleted: . As mentioned above, a major challenge in the interpretation of exome and genome data lies in the identification of the actual disease-causing mutation (or mutations) among very numerous candidate variants. Numerous tools have been developed over the last decade or so to predict the pathogenicity of nonsynonymous substitutions in protein coding sequences on the basis of attributes such as evolutionary conservation, physicochemical characteristics of the wild-type and mutant amino acids, and protein structure, including PolyPhen [START_REF] Ramensky | Human non-synonymous SNPs: server and survey[END_REF] , ProPhylER [START_REF] Binkley | ProPhylER: a curated online resource for protein function and structure based on evolutionary constraint analyses[END_REF] , and many others. Other groups have developed tools that integrate and visualize the output of multiple prediction routines [START_REF] Schwarz | MutationTaster evaluates disease-causing potential of sequence alterations[END_REF]. While these tools are highly useful for the prioritization of sequence variants, they are currently not reliable enough to make a definitive diagnosis in the setting of exome and genome analysis. One of the most important areas of research for bioinformatics in human genetics will be the development of analysis procedures that will combine the output of prioritization tools with phenotypic and pedigree data as well as data from databases of neutral variants and of disease-causing mutations in order to improve and facilitate the interpretation of exomic and genomic data in a clinical setting. Another interesting area of research will be the development of computational tools that use phenotype data from model organisms to help understand human disease. enables clinical scientists worldwide to maintain records of phenotype and chromosome rearrangement for their patients, which enables international data sharing and integration and has helped to delineate a number of new syndromes [START_REF] Firth | DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources[END_REF].

Registries for mutations

At present, there is no such database for single-gene mutations, and much less for exome and genome data. While the ethical and privacy issues surrounding such databases are substantial and will need to be worked out in the near future, it seems clear that the full potential of exome sequencing for patient care will not be reached without a significant investment in public databases for medically relevant exome data that contains standardized descriptions of the genotype and the phenotype.

The Human Variome Project (HVP; http://www.humanvariomeproject.org/) is the natural successor to the Human Genome Project. It aims to improve human health by the establishment and maintenance of standards, systems, and infrastructure for the worldwide collection and sharing of all genetic variations affecting human disease. The goal is to make internationally available all existing genetic variants and tools to interpret and use these to diagnose, and treat individuals with the existing state-of-theart knowledge regarding genetic-genomic information. It will do so by data collection into all existing and new locus-, gene-or disease-specific databases where data is reviewed by numerous experts in the field. The collection of data to these LSDBs could sometimes be facilitated through a network of HVP Country Nodes, created in partnership with Human Genetics Societies in individual countries across the globe. Those nodes are data repositories that are run, managed and funded within each country and which could correspond with local databases and international LSDBs. In this issue is described how to initiate a HVP Country Node (Al [START_REF] Aama | Initiating a Human Variome Project Country Node[END_REF].

Nodes exist already in Belgium, China, Egypt, Malaysia and Australia.

The GeneInsight Suit, similar to a country node, is an application and networking infrastructure enabling organizations to use a platform of software applications and consists of a laboratory/knowledge management application (GI Lab), a provider communicating with organizations (research or clinical) using GI Clinic [START_REF] Aronson | The GeneInsight Suite: A Platform to Support Laboratory and Provider Use of DNA based Genetic Testing[END_REF]. This platform could be used to obtain high-quality state of the art reports from genetic testing regarding gene variants in every gene and their relation to disease, drug efficacy and drug response -and also manage to automatically deliver up-dates to these reports later when state of the art changes.

The GEN2PHEN project (http://www.gen2phen.org/), described in this issue by [START_REF] Webb | An Informatics Project and Online 'Knowledge Centre' Supporting Modern Genotype-to-Phenotype Research[END_REF], is another project that aims to assist in organizing the flood of existing genomic information. Within the GEN2PHEN project an evaluation of all existing locusspecific databases showed that there are more than 1,000 LSDBs covering almost 1,000 genes with some genes being represented in more than one LSDB [START_REF] Webb | An Informatics Project and Online 'Knowledge Centre' Supporting Modern Genotype-to-Phenotype Research[END_REF]. It is of value not to have overlapping LSDBs and concentrating the efforts in generating a high quality LSDB with professional curators with expertise in a certain topic will make the best use of existing data. The international society for inherited gastro-intestinal tumors (InSiGHT; http://www.insight-group.org/) is one example when an organization in line with the HVP made an effort to centralize and improve several Often it is not clear what is relevant to submit to each LSDB. Typically, a genetic variant in a gene is reported related to a certain disease. The patient was screened for the gene because there was a clinical suspicion of the disease and the basis for this was symptoms or a diagnosis in the patient and his relatives. Normally, when the interpretation is a pathogenic mutation, the same variant will not be reported when it is found again in affected or healthy relatives -or even in unrelated subjects. There is an ongoing debate whether to report all genetic variants in all individuals or not. The reason to report all subjects is mainly for scientific purposes. For clinical purposes it is most important to report so called unclassified variants -i.e., those that are difficult to interpret and cannot be unambiguously classified as pathogenic or neutral at the point of diagnosis. To solve the issue of an unclassified variant needs research. Those studies could constitute in silico or in vitro functional tests, clinical information from many tested subjects, as well as for all relatives or (for not too rare variants), association studies in large cohorts of cases and controls. For scientific purposes it could be of value to obtain data of all individuals with a certain variant -however, it is likely more accurate for a scientist to approach the local databases to obtain full information since the individual health record is probably the source closest to the patient and the most relevant and updated. For clinicians or labs to submit data purely for unknown research interests will also likely result in low-quality or no data, low chance that data will be updated and low chance that data will be associated with relevant clinical parameters -because of low motivation for submitters. Finally, it will be of utmost importance to create a health care system with electronic health records with systematic coding of clinical/phenotypic as well as genetic/genomic data. This will require an ontology for common clinical parameters and lab data, including genetic/genomic data for the individual and related tissues. It will also be necessary to complement the health care systems with software and tools for clinical decision making and messaging frameworks and to educate the health care system on how to use available systems on the internet.

Formatted

  the HPO by several other groups is currently in the planning stage.

  it would be extremely useful to have a centralized, open-access database of genotypes and phenotypes that could be used to assess the significance of sequence patients in a diagnostic setting. DECIPHER, the Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources,

  the genes involved in familial gastrointestinal tumors, such as Lynch syndrome and familial adenomatous polyposis.

  just a few of the more important areas in which the field of bioinformatics is providing an indispensable contribution to research and clinical care in human genetics. The influence of bioinformatics is likely to continue to grow hand in hand with advances in next-generation sequencing and other high-throughput technologies in biomedicine. The full promise of these advances for patient care will only be attainable if geneticists and bioinformaticians are able to cope with the challenges of this kind of data analysis. Training programs in bioinformatics should include human genetics and genomics, and correspondingly, training programs in medicine and human genetics will need to increase coverage of statistics, genomics, and even bioinformatics.

John Wiley & Sons, Inc.Human Mutation