Whole genome characterization of sequence diversity of 15,220 Icelanders
2017; Nature Portfolio; Volume: 4; Issue: 1 Linguagem: Inglês
10.1038/sdata.2017.115
ISSN2052-4463
AutoresHákon Jónsson, Patrick Sulem, Birte Kehr, Snædís Kristmundsdóttir, Florian Zink, Eirikur Hjartarson, Marteinn T. Hardarson, Kristján Eldjárn Hjörleifsson, Hannes P. Eggertsson, Sigurjón A. Guðjónsson, Lucas D. Ward, Gudny A. Arnadottir, Einar A. Helgason, Hannes Helgason, Arnaldur Gylfason, Aðalbjörg Jónasdóttir, Áslaug Jónasdóttir, Þórunn Rafnar, Søren Besenbacher, Michael L. Frigge, Simon Stacey, Ólafur Þ. Magnússon, Unnur Þorsteinsdóttir, Gísli Másson, Augustine Kong, Bjarni V. Halldórsson, Agnar Helgason, Daníel F. Guðbjartsson, Kári Stéfansson,
Tópico(s)Cancer Genomics and Diagnostics
ResumoAbstract Understanding of sequence diversity is the cornerstone of analysis of genetic disorders, population genetics, and evolutionary biology. Here, we present an update of our sequencing set to 15,220 Icelanders who we sequenced to an average genome-wide coverage of 34X. We identified 39,020,168 autosomal variants passing GATK filters: 31,079,378 SNPs and 7,940,790 indels. Calling de novo mutations (DNMs) is a formidable challenge given the high false positive rate in sequencing datasets relative to the mutation rate. Here we addressed this issue by using segregation of alleles in three-generation families. Using this transmission assay, we controlled the false positive rate and identified 108,778 high quality DNMs. Furthermore, we used our extended family structure and read pair tracing of DNMs to a panel of phased SNPs, to determine the parent of origin of 42,961 DNMs.
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