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

ABSTRACT:

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 sequencing was performed. Nuclear variants were prioritised on the basis of gene panels chosen according to phenotypes, ClinVar pathogenic/likely pathogenic variants, and the top 10 prioritised variants from Exomiser. Mitochondrial DNA variants were called using an in-house pipeline and compared with a list of pathogenic variants. Copy number variant

SUBMITTER: Schon KR 

PROVIDER: S-EPMC8565085 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature