The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.
Lisa G RileyMark J CowleyVelimir GayevskiyAndre E MinocheClare PuttickDavid R ThorburnRocio RiusAlison G ComptonMinal J MenezesKaustuv BhattacharyaDavid ComanCarolyn EllawayIan E AlexanderLouisa AdamsMaina KavaJacqui RobinsonCarolyn M SueShanti BalasubramaniamJohn ChristodoulouPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
GS efficiently identifies variants in MD genes of both nuclear and mitochondrial origin. A likely molecular diagnosis was identified in 67% of cases and a definitive molecular diagnosis achieved in 55% of cases. This study highlights the value of GS for a phenotypically and genetically heterogeneous disorder like MD.