Article

The mutational constraint spectrum quantified from variation in 141,456 humans

2019-01-28

Abstract excerpt

<h4>Summary</h4> Genetic variants that inactivate protein-coding genes are a powerful source of information about the phenotypic consequences of gene disruption: genes critical for an organism’s function will be depleted for such variants in natural populations, while non-essential genes will tolerate their accumulation. However, predicted loss-of-function (pLoF) variants are enriched for annotation errors, and t...

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Literature Corpus work: 84a54e74-2687-591b-9148-81f79969f0e7
DOI: 10.1101/531210

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