Article

Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project

2025-08-19

Abstract excerpt

<h4>Background: </h4> Whole-genome sequencing (WGS) projects for rare disease diagnosis typically yield a diagnostic rate of approximately 25-40%, dependent particularly on patient selection and the extent of prior genetic testing. The Scottish Genomes Partnership (SGP) is a collaborative research programme involving four Scottish Regional Genetics Centres, four Scottish Medical Schools, and Genomics England's 100...

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Literature Corpus work: faee8d6b-041c-56d6-8c2d-c573256ef057
DOI: 10.1101/2025.08.19.25333674

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