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

2025-08-19 genetic and genomic medicine Title + abstract only

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BackgroundWhole-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 Englands 100,000 Genomes Project. It aims to facilitate genome sequencing and diagnosis for patients in the ...

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

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