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  • Identification of a large s...
    Sulem, Patrick; Helgason, Hannes; Oddson, Asmundur; Stefansson, Hreinn; Gudjonsson, Sigurjon A; Zink, Florian; Hjartarson, Eirikur; Sigurdsson, Gunnar Th; Jonasdottir, Adalbjorg; Jonasdottir, Aslaug; Sigurdsson, Asgeir; Magnusson, Olafur Th; Kong, Augustine; Helgason, Agnar; Holm, Hilma; Thorsteinsdottir, Unnur; Masson, Gisli; Gudbjartsson, Daniel F; Stefansson, Kari

    Nature genetics, 05/2015, Letnik: 47, Številka: 5
    Journal Article

    Loss-of-function mutations cause many mendelian diseases. Here we aimed to create a catalog of autosomal genes that are completely knocked out in humans by rare loss-of-function mutations. We sequenced the whole genomes of 2,636 Icelanders and imputed the sequence variants identified in this set into 101,584 additional chip-genotyped and phased Icelanders. We found a total of 6,795 autosomal loss-of-function SNPs and indels in 4,924 genes. Of the genotyped Icelanders, 7.7% are homozygotes or compound heterozygotes for loss-of-function mutations with a minor allele frequency (MAF) below 2% in 1,171 genes (complete knockouts). Genes that are highly expressed in the brain are less often completely knocked out than other genes. Homozygous loss-of-function offspring of two heterozygous parents occurred less frequently than expected (deficit of 136 per 10,000 transmissions for variants with MAF <2%, 95% confidence interval (CI) = 10-261).