Article
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.
HGG advances - 10 Jul 2025
Stenton Sarah L, Laricchia Kristen, Lake Nicole J, Chaluvadi Sushma, Ganesh Vijay, DiTroia Stephanie, Osei-Owusu Ikeoluwa, Pais Lynn, O'Heir Emily, Austin-Tse Christina, O'Leary Melanie, Abu Shanap Mayada, Barrows Chelsea, Berger Seth, Bönnemann Carsten G, Bujakowska Kinga M, Campagna Dean R, Compton Alison G, Donkervoort Sandra, Fleming Mark D, Gallacher Lyndon, Gleeson Joseph G, Haliloglu Goknur, Pierce Eric A, Place Emily M, Sankaran Vijay G, Shimamura Akiko, Stark Zornitza, Tan Tiong Yang, Thorburn David R, White Susan M, Zaki Maha S, Vilain Eric, Lek Monkol, Rehm Heidi L, O'Donnell-Luria Anne
Abstract excerpt
Variants in the mitochondrial genome (mtDNA) cause a diverse collection of mitochondrial diseases and have extensive phenotypic overlap with Mendelian diseases encoded on the nuclear genome. The mtDNA is not always specifically evaluated in patients with suspected Mendelian disease, resulting in overlooked diagnostic variants. Here, we analyzed a cohort of 6,660 rare disease families (5,625 genetically...
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