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Leigh map: A novel computational diagnostic resource for mitochondrial disease

Rahman, J; Noronha, A; Thiele, I; Rahman, S; (2017) Leigh map: A novel computational diagnostic resource for mitochondrial disease. Annals of Neurology , 81 (1) pp. 9-16. 10.1002/ana.24835. Green open access

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Abstract

Mitochondrial disorders are amongst the most severe metabolic disorders and are beset by genetic, biochemical, and clinical heterogeneity. Variation between individuals and poor understanding of disease pathophysiology pose significant diagnostic challenges. We present a novel interactive computational network, the Leigh Map, cataloguing >1700 gene-to-phenotype interactions in Leigh syndrome, the most common and genetically heterogeneous mitochondrial disorder. Blinded validation of the Leigh Map yielded an 80% success rate in correct identification of causative genes. We conclude that the Leigh Map is an efficacious resource that, in combination with whole-exome sequencing, can be utilized as a novel diagnostic resource for mitochondrial disease. This article is protected by copyright. All rights reserved.

Type: Article
Title: Leigh map: A novel computational diagnostic resource for mitochondrial disease
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1002/ana.24835
Publisher version: http://dx.doi.org/10.1002/ana.24835
Language: English
Additional information: This is the peer reviewed version of the following article: Rahman, J., Noronha, A., Thiele, I. and Rahman, S. (2016), Leigh Map: A Novel Computational Diagnostic Resource for Mitochondrial Disease. Ann Neurol. Accepted Author Manuscript., which has been published in final form at http://dx.doi.org/10.1002/ana.24835. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving.
Keywords: Leigh syndrome, bioinformatics, computational network, gene-phenotype interaction, mitochondrial disease
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
URI: https://discovery.ucl.ac.uk/id/eprint/1533432
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