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Article

Estimating the penetrance of pathogenic gene variants in families with missing pedigree information.

Statistical methods in medical research - 1 Jan 2000

Jonker Marianne A, Rijken Johannes A, Hes Frederik J, Putter Hein, Hensen Erik F

Abstract excerpt

Accurate assessment of the age-dependent disease risk conferred by germline variants in disease susceptibility genes is often hampered by the way the data are collected. Cohort-based data sets frequently contain an overrepresentation of patients (i.e. carriers of the gene variant of interest affected with the associated disease), and an underrepresentation of disease-free carriers. In order to overcome this...

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Identifiers

PMID: 30073909
DOI: 10.1177/0962280218791338
PMCID: PMC6745609

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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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