First-line genomic diagnosis of mitochondrial disorders
Accepted version
Peer-reviewed
Repository URI
Repository DOI
Change log
Authors
Chinnery, PF
Raymond, F Lucy
Abstract
Current approaches for diagnosing mitochondrial disorders involve specialist clinical assessment, biochemical analyses and targeted molecular genetic testing. There is now a strong rationale for undertaking first-line genome-wide sequencing, accelerating the speed of diagnosis and avoiding the need for expensive and invasive investigations.
Description
Keywords
Child, Genomics, Humans, Mitochondrial Diseases, Rare Diseases
Journal Title
Nature Reviews Genetics
Conference Name
Journal ISSN
1471-0056
1471-0064
1471-0064
Volume Title
19
Publisher
Springer Nature
Publisher DOI
Sponsorship
Wellcome Trust (101876/Z/13/Z)
Wellcome Trust (101876/B/13/A)
Cambridge University Hospitals NHS Foundation Trust (CUH) (146281)
Wellcome Trust (109915_A_15_Z)
Medical Research Council (MR/N025431/2)
Wellcome Trust (101876/B/13/A)
Cambridge University Hospitals NHS Foundation Trust (CUH) (146281)
Wellcome Trust (109915_A_15_Z)
Medical Research Council (MR/N025431/2)
FLR receives support from the MRC, Rosetree Foundation, National Institute for Health Research (NIHR) Biomedical Research Centre based at Cambridge University Hospitals NHS Foundation Trust. RH is a Wellcome Investigator (109915/Z/15/Z), who receives support from the Wellcome Centre for Mitochondrial Research (203105/Z/16/Z), Medical Research Council (UK) (MR/N025431/1), the European Research Council (309548), the Wellcome Trust Pathfinder Scheme (201064/Z/16/Z) and the Newton Fund (UK/Turkey, MR/N027302/1). PFC is a Wellcome Trust Senior Fellow in Clinical Science (101876/Z/13/Z), and a UK NIHR Senior Investigator, who receives support from the Medical Research Council Mitochondrial Biology Unit (MC_UP_1501/2), the Medical Research Council (UK) Centre for Translational Muscle Disease (G0601943), the Evelyn Trust, and the National Institute for Health Research (NIHR) Biomedical Research Centre based at Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge.