Whole genome sequencing of Turkish genomes reveals functional private alleles and impact of genetic interactions with Europe, Asia and Africa

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dc.citation.epage12en_US
dc.citation.issueNumber963en_US
dc.citation.spage1en_US
dc.citation.volumeNumber15en_US
dc.contributor.authorAlkan C.en_US
dc.contributor.authorKavak, P.en_US
dc.contributor.authorSomel, M.en_US
dc.contributor.authorGokcumen, O.en_US
dc.contributor.authorUgurlu, S.en_US
dc.contributor.authorSaygi, C.en_US
dc.contributor.authorDal, E.en_US
dc.contributor.authorBugra, K.en_US
dc.contributor.authorGüngör, T.en_US
dc.contributor.authorSahinalp, S. C.en_US
dc.contributor.authorÖzören, N.en_US
dc.contributor.authorBekpen, C.en_US
dc.date.accessioned2015-07-28T12:02:41Z
dc.date.available2015-07-28T12:02:41Z
dc.date.issued2014-11-07en_US
dc.departmentDepartment of Computer Engineeringen_US
dc.description.abstractBackground: Turkey is a crossroads of major population movements throughout history and has been a hotspot of cultural interactions. Several studies have investigated the complex population history of Turkey through a limited set of genetic markers. However, to date, there have been no studies to assess the genetic variation at the whole genome level using whole genome sequencing. Here, we present whole genome sequences of 16 Turkish individuals resequenced at high coverage (32 × −48×). Results: We show that the genetic variation of the contemporary Turkish population clusters with South European populations, as expected, but also shows signatures of relatively recent contribution from ancestral East Asian populations. In addition, we document a significant enrichment of non-synonymous private alleles, consistent with recent observations in European populations. A number of variants associated with skin color and total cholesterol levels show frequency differentiation between the Turkish populations and European populations. Furthermore, we have analyzed the 17q21.31 inversion polymorphism region (MAPT locus) and found increased allele frequency of 31.25% for H1/H2 inversion polymorphism when compared to European populations that show about 25% of allele frequency. Conclusion: This study provides the first map of common genetic variation from 16 western Asian individuals and thus helps fill an important geographical gap in analyzing natural human variation and human migration. Our data will help develop population-specific experimental designs for studies investigating disease associations and demographic history in Turkey.en_US
dc.identifier.doi10.1186/1471-2164-15-963en_US
dc.identifier.issn1471-2164
dc.identifier.urihttp://hdl.handle.net/11693/12705
dc.language.isoEnglishen_US
dc.publisherBioMed Central Ltd.en_US
dc.relation.isversionofhttp://dx.doi.org/10.1186/1471-2164-15-963en_US
dc.source.titleBMC Genomicsen_US
dc.subjectGenome projecten_US
dc.subjectEuropean populationen_US
dc.subjectFamilial mediterranean feveren_US
dc.subjectTurkish populationen_US
dc.subjectWhole genome shotguen_US
dc.subjectDiversityen_US
dc.subjectVariantsen_US
dc.subjectDNAen_US
dc.subjectDiscoveryen_US
dc.subjectHaplotypeen_US
dc.titleWhole genome sequencing of Turkish genomes reveals functional private alleles and impact of genetic interactions with Europe, Asia and Africaen_US
dc.typeArticleen_US

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