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Estimating penetrance from family data using a retrospective likelihood when ascertainment depends on genotype and age of onset.

Genetic epidemiology - 1 Sept 2004

Carayol Jérôme, Bonaïti-Pellié Catherine

Abstract excerpt

In diseases caused by deleterious gene mutations, knowledge of age-specific cumulative risks is necessary for medical management of mutation carriers. When pedigrees are ascertained through several affected persons, ascertainment bias can be corrected by using a retrospective likelihood. This likelihood is a function of the genotypes of pedigree members given their phenotypes and provides unbiased estimates of...

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PMID: 15305327
DOI: 10.1002/gepi.20007

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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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