Article

Unified inference of missense variant effects and gene constraints in the human genome

2019-09-05

Abstract excerpt

A challenge in medical genomics is to identify variants and genes associated with severe genetic disorders. Based on the premise that severe, early-onset disorders often result in a reduction of evolutionary fitness, several statistical methods have been developed to predict pathogenic variants or constrained genes based on the signatures of negative selection in human populations. However, we currently lack a sta...

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Literature Corpus work: 8cbac64b-846b-5be0-b25d-8451341a9e19
DOI: 10.1101/757468

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