The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease
Lisa G. Riley, Mark J. Cowley, Velimir Gayevskiy, André E. Minoche, Clare Puttick, David R. Thorburn, Rocío Rius, Alison G. Compton, Minal Menezes, Kaustuv Bhattacharya, David Coman, Carolyn Ellaway, Ian E. Alexander, Louisa Adams, Maina Kava, Jacqui Robinson, Carolyn M. Sue, Shanti Balasubramaniam, John Christodoulou
Topics & Concepts
Mitochondrial diseaseMitochondrial DNADiseaseMedicineCohortGenomeDNA sequencingGeneticsWhole genome sequencingComputational biologyBioinformaticsBiologyGeneInternal medicineMitochondrial Function and PathologyMetalloenzymes and iron-sulfur proteinsGenomics and Rare Diseases