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Article

Structural biology in variant interpretation: Perspectives and practices from two studies.

American journal of human genetics - 1 May 2025

Varga Matthew J, Richardson Marcy E, Chamberlin Adam

Abstract excerpt

Structural biology offers a powerful lens through which to assess genetic variants by providing insights into their impact on clinically relevant protein structure and function. Due to the availability of new, user-friendly, web-based tools, structural analyses by wider audiences have become more mainstream. These new tools, including AlphaMissense and AlphaFold, have recently been in the limelight due to their...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40233741
DOI: 10.1016/j.ajhg.2025.03.010
PMCID: PMC12120175

Genes

BRCA1
TP53

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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