PEAK: a phenotype-based classification of genetic variants.

Authors

Johann G Maass, Tim Schubert, Laurine K Sprehe, Christian P Schaaf

Published in

Trends in genetics : TIG. Oct 20, 2026. Epub Oct 20, 2026.

Abstract

Current variant classifications do not capture clinical severity relative to other pathogenic variants in the same gene. We propose phenotype-exceeding-(mono)allelic-knockout (PEAK) as a term for variants associated with a more severe clinical phenotype than that of heterozygous null alleles. This mechanism-independent designation may facilitate genotype-phenotype interpretation and identify candidates for allele-selective therapeutic development.

PMID:
42901848
Bibliographic data and abstract were imported from PubMed on 21 Oct 2026.

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