Article

Ancestry-specific performance of variant effect predictors in clinical variant classification

2026-02-17

Abstract excerpt

Predicting the effects of genetic variants and assessing prediction performance are key computational tasks in genomic medicine. It has been shown that well-calibrated variant effect predictors can be reliably used as evidence towards establishing pathogenicity (or benignity) of missense variants, thereby rendering these variants suitable for use in (or exclusion from) the genetic diagnosis of rare Mendelian condi...

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Literature Corpus work: 4da125d1-43c1-5b88-93be-927b4e507c5b
DOI: 10.64898/2026.02.14.705914

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