Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases
Sarah L. Stenton, Kristen M. Laricchia, Nicole J. Lake, Sushma Chaluvadi, Vijay Ganesh, Stephanie P. DiTroia, Ikeoluwa Osei‐Owusu, Lynn S. Pais, Emily O’Heir, Christina Anne Austin-Tse, Melanie O’Leary, Mayada Abu Shanap, Chelsea Barrows, Seth Berger, Carsten G. Bönnemann, , Anne O’Donnell‐Luria
The paper identifies mitochondrial DNA variants in undiagnosed rare disease families using exome and genome sequencing data, leading to diagnoses in 0.4% of cases.
Human Genetics and Genomics Advances · Apr 15, 2025Peer-reviewedGenetic & Genomic Medicine