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

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By Prasun Dutta, Alistair T. Pagnamenta, Christelle Robert, Anthony McGuigan, Alison Ross Verified, Ruth McGowan, Morad Ansari, David Baty, Jonathan N Berg, Austin Diamond, Mihail Halachev, Alison Meynert, Caitlin Newman, Marian Thomson, Urmi Trivedi, Nicola Williams Verified, Jing Yu, Javier Santoyo-Lopez, Zosia Miedzybrodzka, Jenny Taylor, Timothy J. Aitman, Edward S. Tobias, Therese Bradley, Vera Cerqueira, Anne Lampe
| Nature Verified
Abstract Whole-genome sequencing (WGS) projects for rare disease diagnosis typically yield a diagnostic rate of 25–41%, depending on the methods for patient selection and the extent of prior genetic testing. The Scottish Genomes Partnership (SGP) is a collaborative programme using genome sequencing to diagnose rare disease patients with presumed monogenic aetiology in the Scottish NHS. Within SGP, short-read sequencing (SRS) had previously achieved a diagnostic rate of 23% in affected families.
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