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Article

Calibration of variant effect predictors on genome-wide data masks heterogeneous performance across genes.

American journal of human genetics - 5 Sept 2024

Tejura Malvika, Fayer Shawn, McEwen Abbye E, Flynn Jake, Starita Lea M, Fowler Douglas M

Abstract excerpt

In silico variant effect predictions are available for nearly all missense variants but played a minimal role in clinical variant classification because they were deemed to provide only supporting evidence. Recently, the ClinGen Sequence Variant Interpretation (SVI) Working Group updated recommendations for variant effect prediction use. By analyzing control pathogenic and benign variants across all genes, they...

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Identifiers

PMID: 39173626
DOI: 10.1016/j.ajhg.2024.07.018
PMCID: PMC11393694

Provenance

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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