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Article

Low population penetrance of variants associated with inherited retinal degenerations.

American journal of human genetics - 8 Jan 2026

Zaslavsky Kirill, Chen Liyin, Park Chloe, Place Emily M, Navarro-Gomez Daniel, Zekavat Seyedeh M, Barile Christopher F, Bujakowska Kinga M, Rossin Elizabeth J, Pierce Eric A

Abstract excerpt

Inherited retinal degenerations (IRDs) are the leading cause of blindness in working-age adults and are thought to be monogenic with near-complete penetrance. However, traditional variant discovery based on phenotypic ascertainment may inflate penetrance estimates and obscure the true genotype-phenotype spectrum. We used large biobanks with linked genomic and clinical data to quantify the population-level...

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Identifiers

PMID: 41435840
DOI: 10.1016/j.ajhg.2025.11.015
PMCID: PMC12782285

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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