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 Datajournal_title
Scientific dataauthors
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,Besdoi
10.1038/sdata.2017.115subject
Has Abstractpub_date
2017-09-21 00:00:00pages
170115issn
2052-4463pii
sdata2017115journal_volume
4pub_type
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