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Article

An allelic-series rare-variant association test for candidate-gene discovery.

American journal of human genetics - 3 Aug 2023

McCaw Zachary R, O'Dushlaine Colm, Somineni Hari, Bereket Michael, Klein Christoph, Karaletsos Theofanis, Casale Francesco Paolo, Koller Daphne, Soare Thomas W

Abstract excerpt

Allelic series are of candidate therapeutic interest because of the existence of a dose-response relationship between the functionality of a gene and the degree or severity of a phenotype. We define an allelic series as a collection of variants in which increasingly deleterious mutations lead to increasingly large phenotypic effects, and we have developed a gene-based rare-variant association test specifically...

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Identifiers

PMID: 37494930
DOI: 10.1016/j.ajhg.2023.07.001
PMCID: PMC10432147

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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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