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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Toward a mtDNA locus-specific mutation database using the LOVD platform
Human Mutation, Volume 33, No. 9, Year 2012
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Description
The Human Variome Project (HVP) is a global effort to collect and curate all human genetic variation affecting health. Mutations of mitochondrial DNA (mtDNA) are an important cause of neurogenetic disease in humans; however, identification of the pathogenic mutations responsible can be problematic. In this article, we provide explanations as to why and suggest how such difficulties might be overcome. We put forward a case in support of a new Locus Specific Mutation Database (LSDB) implemented using the Leiden Open-source Variation Database (LOVD) system that will not only list primary mutations, but also present the evidence supporting their role in disease. Critically, we feel that this new database should have the capacity to store information on the observed phenotypes alongside the genetic variation, thereby facilitating our understanding of the complex and variable presentation of mtDNA disease. LOVD supports fast queries of both seen and hidden data and allows storage of sequence variants from high-throughput sequence analysis. The LOVD platform will allow construction of a secure mtDNA database; one that can fully utilize currently available data, as well as that being generated by high-throughput sequencing, to link genotype with phenotype enhancing our understanding of mitochondrial disease, with a view to providing better prognostic information. © 2012 Wiley Periodicals, Inc.
Authors & Co-Authors
Elson, Joanna L.
United Kingdom, Newcastle
Wellcome Trust Centre for Mitochondrial Research
United Kingdom, Newcastle
University of Newcastle Upon Tyne, Faculty of Medical Sciences
Sweeney, Mary G.
United Kingdom, London
National Hospital for Neurology and Neurosurgery
Procaccio, Vincent
France, Paris
Inserm
Yarham, John W.
United Kingdom, Newcastle
Wellcome Trust Centre for Mitochondrial Research
Salas, Antonio
Spain, Santiago de Compostela
Universidad de Santiago de Compostela
Kong, Qing Peng
China, Kunming
Kunming Institute of Zoology Chinese Academy of Sciences
Van Der Westhuizen, F. H.
South Africa, Potchefstroom
North-west University
Pitceathly, Robert D.S.
United Kingdom, London
National Hospital for Neurology and Neurosurgery
Thorburn, David Ross
Australia, Melbourne
Murdoch Children's Research Institute
Lott, Marie T.
United States, Philadelphia
University of Pennsylvania
Wallace, Douglas C.
United States, Philadelphia
University of Pennsylvania
Taylor, Robert William
United Kingdom, Newcastle
Wellcome Trust Centre for Mitochondrial Research
McFarland, Robert M.
United Kingdom, Newcastle
Wellcome Trust Centre for Mitochondrial Research
Statistics
Citations: 13
Authors: 13
Affiliations: 9
Identifiers
Doi:
10.1002/humu.22118
ISSN:
10597794
e-ISSN:
10981004
Research Areas
Cancer
Genetics And Genomics