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Integration of Protein Structure and Population-Scale DNA Sequence Data for Disease Gene Discovery and Variant Interpretation.

Annual review of biomedical data science - 10 Aug 2022

Li Bian, Jin Bowen, Capra John A, Bush William S

Abstract excerpt

The experimental and computational techniques for capturing information about protein structures and genetic variation within the human genome have advanced dramatically in the past 20 years, generating extensive new data resources. In this review, we discuss these advances, along with new approaches for determining the impact a genetic variant has on protein function. We focus on the potential of new methods...

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PMID: 35508071
DOI: 10.1146/annurev-biodatasci-122220-112147

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