Whole genome characterization of sequence diversity of 15,220 Icelanders.

Abstract:

: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.

journal_name

Sci Data

journal_title

Scientific data

authors

Jónsson H,Sulem P,Kehr B,Kristmundsdottir S,Zink F,Hjartarson E,Hardarson MT,Hjorleifsson KE,Eggertsson HP,Gudjonsson SA,Ward LD,Arnadottir GA,Helgason EA,Helgason H,Gylfason A,Jonasdottir A,Jonasdottir A,Rafnar T,Bes

doi

10.1038/sdata.2017.115

subject

Has Abstract

pub_date

2017-09-21 00:00:00

pages

170115

issn

2052-4463

pii

sdata2017115

journal_volume

4

pub_type

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