@pdutta.bsky.social
Excited to share our latest preprint from the Scottish Genomes Partnership (SGP)! In SGP, Oxford Nanopore long-read whole genome sequencing was applied to 24 undiagnosed rare-disease families:
MedRxiv Preprint-
www.medrxiv.org/content/10.1...
MedRxiv Preprint-
www.medrxiv.org/content/10.1...
Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project
Background 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 pr...
www.medrxiv.org
September 6, 2025 at 10:29 AM
Excited to share our latest preprint from the Scottish Genomes Partnership (SGP)! In SGP, Oxford Nanopore long-read whole genome sequencing was applied to 24 undiagnosed rare-disease families:
MedRxiv Preprint-
www.medrxiv.org/content/10.1...
MedRxiv Preprint-
www.medrxiv.org/content/10.1...