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

https://arctichealth.org/en/permalink/ahliterature290058
Source
Sci Data. 2017 09 21; 4:170115
Publication Type
Dataset
Journal Article
Date
09-21-2017
Author
Hákon Jónsson
Patrick Sulem
Birte Kehr
Snaedis Kristmundsdottir
Florian Zink
Eirikur Hjartarson
Marteinn T Hardarson
Kristjan E Hjorleifsson
Hannes P Eggertsson
Sigurjon Axel Gudjonsson
Lucas D Ward
Gudny A Arnadottir
Einar A Helgason
Hannes Helgason
Arnaldur Gylfason
Adalbjorg Jonasdottir
Aslaug Jonasdottir
Thorunn Rafnar
Soren Besenbacher
Michael L Frigge
Simon N Stacey
Olafur Th Magnusson
Unnur Thorsteinsdottir
Gisli Masson
Augustine Kong
Bjarni V Halldorsson
Agnar Helgason
Daniel F Gudbjartsson
Kari Stefansson
Author Affiliation
deCODE genetics/Amgen Inc., Sturlugata 8, Reykjavik 101, Iceland.
Source
Sci Data. 2017 09 21; 4:170115
Date
09-21-2017
Language
English
Publication Type
Dataset
Journal Article
Keywords
Genome, Human
Humans
INDEL Mutation
Iceland
Polymorphism, Single Nucleotide
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.
Notes
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PubMed ID
28933420 View in PubMed
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