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Article

Complex de novo structural variants are an underestimated cause of rare disorders.

Nature communications - 3 Nov 2025

Jung Hyunchul, Yang Tsun-Po, Walker Susan, Danecek Petr, Garcia-Salinas O Isaac, Neville Matthew D C, Christopher Joseph, Cortés-Ciriano Isidro, Firth Helen, Scally Aylwyn, Hurles Matthew, Campbell Peter, Rahbari Raheleh

Abstract excerpt

Complex de novo structural variants (dnSVs) are crucial genetic factors in rare disorders, yet their prevalence and characteristics in rare disorders remain poorly understood. Here, we conduct a comprehensive analysis of whole-genome sequencing data of 12,568 families, including 13,698 offspring with rare diseases, obtained as part of the UK 100,000 Genomes Project. We identify 1,870 dnSVs, constituting the...

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Identifiers

PMID: 41184278
DOI: 10.1038/s41467-025-64722-2
PMCID: PMC12583596

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