Article
Whole genome characterization of sequence diversity of 15,220 Icelanders.
Scientific data - 21 Sept 2017
Jónsson Hákon, Sulem Patrick, Kehr Birte, Kristmundsdottir Snaedis, Zink Florian, Hjartarson Eirikur, Hardarson Marteinn T, Hjorleifsson Kristjan E, Eggertsson Hannes P, Gudjonsson Sigurjon Axel, Ward Lucas D, Arnadottir Gudny A, Helgason Einar A, Helgason Hannes, Gylfason Arnaldur, Jonasdottir Adalbjorg, Jonasdottir Aslaug, Rafnar Thorunn, Besenbacher Soren, Frigge Michael L, Stacey Simon N, Magnusson Olafur Th, Thorsteinsdottir Unnur, Masson Gisli, Kong Augustine, Halldorsson Bjarni V, Helgason Agnar, Gudbjartsson Daniel F, Stefansson Kari
Abstract excerpt
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...
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