Article

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

2024-08-07

Abstract excerpt

<title>Abstract</title> <p> Complex <italic>de novo</italic> structural variants (dnSVs) are crucial genetic factors in rare disorders, yet their prevalence and characteristics in rare disorders remain poorly understood. Here, we conducted a comprehensive analysis of whole-genome sequencing data of 12,568 families, including 13,698 offspring with rare diseases, as part of the UK 100,000 Genomes Project. We ide...

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Literature Corpus work: 92d2fc11-4879-5d54-9d7b-b04d008e7112
DOI: 10.21203/rs.3.rs-4197130/v1

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