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Article

Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts.

Nature genetics - 1 Sept 2024

Wright Caroline F, Sharp Luke N, Jackson Leigh, Murray Anna, Ware James S, MacArthur Daniel G, Rehm Heidi L, Patel Kashyap A, Weedon Michael N

Abstract excerpt

Penetrance is the probability that an individual with a pathogenic genetic variant develops a specific disease. Knowing the penetrance of variants for monogenic disorders is important for counseling of individuals. Until recently, estimates of penetrance have largely relied on affected individuals and their at-risk family members being clinically referred for genetic testing, a 'phenotype-first' approach. This...

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PMID: 39075210
DOI: 10.1038/s41588-024-01842-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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