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Article

Variant Effect Prediction in the Age of Machine Learning.

Cold Spring Harbor perspectives in biology - 1 Jul 2024

Bromberg Yana, Prabakaran R, Kabir Anowarul, Shehu Amarda

Abstract excerpt

Over the years, many computational methods have been created for the analysis of the impact of single amino acid substitutions resulting from single-nucleotide variants in genome coding regions. Historically, all methods have been supervised and thus limited by the inadequate sizes of experimentally curated data sets and by the lack of a standardized definition of variant effect. The emergence of unsupervised,...

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Identifiers

PMID: 38621825
DOI: 10.1101/cshperspect.a041467
PMCID: PMC11216171

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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