Article

Health and population effects of rare gene knockouts in adult humans with related parents

2015-11-14

Abstract excerpt

<h4>Abstract:</h4> Complete gene knockouts are highly informative about gene function. We exome sequenced 3,222 British Pakistani-heritage adults with high parental relatedness, discovering 1,111 rare-variant homozygous likely loss of function (rhLOF) genotypes predicted to disrupt (knockout) 781 genes. Based on depletion of rhLOF genotypes, we estimate that 13.6% of knockouts are incompatible with adult life, fi...

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Literature Corpus work: f1edffca-e7be-5941-af5a-ae2de98f7fac
DOI: 10.1101/031641

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