Article

Deciphering the role of germline complex de novo structural variations in rare disorders

2024-04-03

Abstract excerpt

De novo structural variants (dnSVs) have emerged as crucial genetic factors in the context of rare disorders. However, these variations often go undiagnosed in routine genetic screening practices. To shed light on their significance in rare disease, we conducted a comprehensive analysis of the largest cohort of parent-offspring whole-genome sequencing data from the UK 100,000 Genomes Project. Our study encompassed...

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Literature Corpus work: b9fb7c0c-2dd2-52e5-bcec-e6cbbf1c919f
DOI: 10.1101/2024.04.03.587925

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