Identification of a large set of rare complete human knockouts View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2015-05

AUTHORS

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

ABSTRACT

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). More... »

PAGES

448-452

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng.3243

DOI

http://dx.doi.org/10.1038/ng.3243

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1042700161

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25807282


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