Large-scale whole-genome sequencing of the Icelandic population
Abstract
Here we describe the insights gained from sequencing the whole genomes of 2,636 Icelanders to a median depth of 20×. We found 20 million SNPs and 1.5 million insertions-deletions (indels). We describe the density and frequency spectra of sequence variants in relation to their functional annotation, gene position, pathway and conservation score. We demonstrate an excess of homozygosity and rare protein-coding variants in Iceland. We imputed these...
Paper Details
Title
Large-scale whole-genome sequencing of the Icelandic population
Published Date
Mar 25, 2015
Journal
Volume
47
Issue
5
Pages
435 - 444
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