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

Alkan, C., Kavak, P., Somel, M., Gokcumen, O., Ugurlu, S., Saygi, C., et al. (2014). Whole genome sequencing of Turkish genomes reveals functional private alleles and impact of genetic interactions with Europe, Asia and Africa. BMC Genomics, 15: 963. doi:10.1186/1471-2164-15-963.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0024-B5E6-F Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0024-B5E7-D
Genre: Journal Article

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 Creators:
Alkan, Can, Author
Kavak, Pinar, Author
Somel, Mehmet, Author
Gokcumen, Omer, Author
Ugurlu, Serkan, Author
Saygi, Ceren, Author
Dal, Elif, Author
Bugra, Kuyas, Author
Güngör, Tunga, Author
Sahinalp, S. Cenk, Author
Özören, Nesrin, Author
Bekpen, Cemalettin1, Author              
Affiliations:
1Department Evolutionary Genetics, Max Planck Institute for Evolutionary Biology, Max Planck Society, ou_1445635              

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 Abstract: Background: 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.

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Language(s): eng - English
 Dates: 2014-05-122014-10-142014-11-07
 Publication Status: Published online
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 Identifiers: DOI: 10.1186/1471-2164-15-963
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Title: BMC Genomics
Source Genre: Journal
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Publ. Info: BioMed Central
Pages: - Volume / Issue: 15 Sequence Number: 963 Start / End Page: - Identifier: ISSN: 1471-2164
CoNE: /journals/resource/111000136905010