The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome

István Bartha, Antonio Rausell, Paul J McLaren, Pejman Mohammadi, Manuel Tardaguila, Nimisha Chaturvedi, Jacques Fellay and Amalio Telenti

PLOS Computational Biology, 2015, vol. 11, issue 12, 1-14

Abstract: Sequencing projects have identified large numbers of rare stop-gain and frameshift variants in the human genome. As most of these are observed in the heterozygous state, they test a gene’s tolerance to haploinsufficiency and dominant loss of function. We analyzed the distribution of truncating variants across 16,260 autosomal protein coding genes in 11,546 individuals. We observed 39,893 truncating variants affecting 12,062 genes, which significantly differed from an expectation of 12,916 genes under a model of neutral de novo mutation (p

Date: 2015
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Persistent link: https://EconPapers.repec.org/RePEc:plo:pcbi00:1004647

DOI: 10.1371/journal.pcbi.1004647

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