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Article

Machine Learning of Three-Dimensional Protein Structures to Predict the Functional Impacts of Genome Variation.

Journal of chemical information and modeling - 8 Jul 2024

Shukla Kriti, Idanwekhai Kelvin, Naradikian Martin, Ting Stephanie, Schoenberger Stephen P, Brunk Elizabeth

Abstract excerpt

Research in the human genome sciences generates a substantial amount of genetic data for hundreds of thousands of individuals, which concomitantly increases the number of variants of unknown significance (VUS). Bioinformatic analyses can successfully reveal rare variants and variants with clear associations with disease-related phenotypes. These studies have had a significant impact on how clinical genetic...

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Identifiers

PMID: 38635316
DOI: 10.1021/acs.jcim.3c01967

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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