Article
Identification of a large set of rare complete human knockouts.
Nature genetics - 1 May 2015
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
Abstract excerpt
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...
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