Ontology highlight
ABSTRACT:
SUBMITTER: Elson JL
PROVIDER: S-EPMC4394605 | biostudies-literature | 2012 Sep
REPOSITORIES: biostudies-literature
Elson Joanna L JL Sweeney Mary G MG Procaccio Vincent V Yarham John W JW Salas Antonio A Kong Qing-Peng QP van der Westhuizen Francois H FH Pitceathly Robert D S RD Thorburn David R DR Lott Marie T MT Wallace Douglas C DC Taylor Robert W RW McFarland Robert R
Human mutation 20120702 9
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 us ...[more]