Article

Heterozygous gene truncation delineates the human haploinsufficient genome

2014-10-23

Abstract excerpt

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 protein coding autosomal genes in 11,546 individuals. We observed 39,893 truncating variants affect...

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Literature Corpus work: 04b842cc-e525-5653-b291-a85dcf1b5571
DOI: 10.1101/010611

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