![]() The Human Variome Project (HVP) is a global effort to collect and curate all human genetic variation affecting health. Salas, Antonio Kong, Qing-Peng van der Westhuizen, Francois H. Toward a mtDNA Locus-Specific Mutation Database Using the LOVD PlatformĮlson, Joanna L. 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. LOVD supports fast queries of both seen and hidden data and allows storage of sequence variants from high-throughput sequence analysis. 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. 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. ![]() In this article, we provide explanations as to why and suggest how such difficulties might be overcome. Mutations of mitochondrial DNA (mtDNA) are an important cause of neurogenetic disease in humans however, identification of the pathogenic mutations responsible can be problematic. Toward a mtDNA locus-specific mutation database using the LOVD platform.Įlson, Joanna L Sweeney, Mary G Procaccio, Vincent Yarham, John W Salas, Antonio Kong, Qing-Peng van der Westhuizen, Francois H Pitceathly, Robert D S Thorburn, David R Lott, Marie T Wallace, Douglas C Taylor, Robert W McFarland, Robert To promote the use of LOVD, we currently offer curators the possibility to set up an LSDB on our Leiden server. The LOVD software is freely available from the Leiden Muscular Dystrophy pages (LOVD/). The open set-up should both facilitate and promote functional extension with scripts written by the community. With minimal effort, the LOVD platform is extendable with clinical data. The basic gene-centered and modular design of the database follows the recommendations of the Human Genome Variation Society (HGVS) and focuses on the collection and display of DNA sequence variations. LOVD is platform-independent and uses PHP and MySQL open source software only. We have developed the Leiden Open (source) Variation Database ( LOVD) software approaching the "LSDB-in-a-Box" idea for the easy creation and maintenance of a fully web-based gene sequence variation database. Direct access to up-to-date information on sequence variation is currently provided most efficiently through web-based, gene-centered, locus-specific databases (LSDBs). ![]() The completion of the human genome project has initiated, as well as provided the basis for, the collection and study of all sequence variation between individuals. LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach.įokkema, Ivo F A C den Dunnen, Johan T Taschner, Peter E M ![]()
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