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Article

Genetic Modulators of Disease Penetrance.

Annual review of biomedical data science - 1 Aug 2026

Kang Yunjun, Drivas Theodore G

Abstract excerpt

In human genetics, penetrance describes the probability that a genotype manifests as a phenotype within a defined clinical window, yet its biological determinants remain poorly understood. Advances in sequencing technologies, statistical frameworks, and biobank-scale resources now enable systematic discovery of penetrance-modifying coding, regulatory, and structural variants spanning the allele frequency-effect...

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Identifiers

PMID: 41990334
DOI: 10.1146/annurev-biodatasci-103123-094547

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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