Toward a mtDNA locus-specific mutation database using the LOVD platform.

ABSTRACT: 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 gen

SUBMITTER: Elson JL 

PROVIDER: S-EPMC4394605 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature