Article

Genetic constraint at single amino acid resolution improves missense variant prioritisation and gene discovery

2022-02-21

Abstract excerpt

The clinical impact of most germline missense variants in humans remains unknown. Genetic constraint identifies genomic regions under negative selection, where variations likely have functional impacts, but the spatial resolution of existing constraint metrics is limited. Here we present the Homologous Missense Constraint (HMC) score, which measures genetic constraint at quasi single amino-acid resolution by aggre...

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Literature Corpus work: 311633ab-abfd-5fab-9dab-97fa3d7300ca
DOI: 10.1101/2022.02.16.22271023

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