Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.

doi:10.1136/bmj-2021-066288

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Article

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.

BMJ (Clinical research ed.) - 3 Nov 2021

Schon Katherine R, Horvath Rita, Wei Wei, Calabrese Claudia, Tucci Arianna, Ibañez Kristina, Ratnaike Thiloka, Pitceathly Robert D S, Bugiardini Enrico, Quinlivan Rosaline, Hanna Michael G, Clement Emma, Ashton Emma, Sayer John A, Brennan Paul, Josifova Dragana, Izatt Louise, Fratter Carl, Nesbitt Victoria, Barrett Timothy, McMullen Dominic J, Smith Audrey, Deshpande Charulata, Smithson Sarah F, Festenstein Richard, Canham Natalie, Caulfield Mark, Houlden Henry, Rahman Shamima, Chinnery Patrick F

Abstract excerpt

OBJECTIVE: To determine whether whole genome sequencing can be used to define the molecular basis of suspected mitochondrial disease. DESIGN: Cohort study. SETTING: National Health Service, England, including secondary and tertiary care. PARTICIPANTS: 345 patients with suspected mitochondrial disorders recruited to the 100 000 Genomes Project in England between 2015 and 2018. INTERVENTION: Short read whole genome...

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PMID: 34732400
DOI: 10.1136/bmj-2021-066288
PMCID: PMC8565085

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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