Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project
Prasun Dutta, Alistair T. Pagnamenta, Christelle Robert, Anthony McGuigan, Alison Ross, Edward S. Tobias, Ruth McGowan, Morad Ansari, David U. Baty, Jonathan N. Berg, Therese Bradley, Vera Cerqueira, Austin G. Diamond, Mihail R. Halachev, Anne Lampe, , Timothy J. Aitman
This study uses long-read sequencing to identify pathogenic structural variants in undiagnosed rare disease families, increasing diagnostic yield in three families.
European Journal of Human Genetics · Aug 5, 2026Peer-reviewedGenetic & Genomic Medicine