Article

Reduced penetrance of <i>COL1A1/2</i> pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort

2025-10-23

Abstract excerpt

Osteogenesis imperfecta (OI) is under consideration for inclusion in several genomic newborn screening initiatives, but its penetrance in clinically-unselected populations is currently unknown. It is an exemplar condition for evaluating penetrance in adult cohorts due to its relatively low mortality, variable expressivity and link to several large genes. Using genome sequencing data from ∼500,000 adults in UK Biob...

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Literature Corpus work: 236b2ab9-5a4e-58fc-96c4-9be45b2fc776
DOI: 10.1101/2025.10.22.25338523

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