title: HmtDB, a genomic resource for mitochondrion-based human variability studies.
abstract: HmtDB (http://www.hmtdb.uniba.it:8080/hmdb) is a open resource created to support population genetics and mitochondrial disease studies. The database hosts human mitochondrial genome sequences annotated with population and variability data, the latter being estimated through the application of the SiteVar software based on site-specific nucleotide and amino acid variability calculations. The annotations are manually curated thus adding value to the quality of the information provided to the end-user. Classifier tools implemented in HmtDB allow the prediction of the haplogroup for any human mitochondrial genome currently stored in HmtDB or externally submitted de novo by an end-user. Haplogroup definition is based on the Phylotree system. End-users accessing HmtDB are hence allowed to (i) browse the database through the use of a multi-criterion 'query' system; (ii) analyze their own human mitochondrial sequences via the 'classify' tool (for complete genomes) or by downloading the 'fragment-classifier' tool (for partial sequences); (iii) download multi-alignments with reference genomes as well as variability data.
authors.affiliation: Dipartimento di Biochimica e Biologia Molecolare E Quagliariello, Università degli studi di Bari, Bari 70126, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Rubino
authors.forename: Roberta
authors.initials: R
authors.lastname: Piredda
authors.forename: Francesco Maria
authors.initials: FM
authors.lastname: Calabrese
authors.forename: Domenico
authors.initials: D
authors.lastname: Simone
authors.forename: Martin
authors.initials: M
authors.lastname: Lang
authors.forename: Claudia
authors.initials: C
authors.lastname: Calabrese
authors.forename: Vittoria
authors.initials: V
authors.lastname: Petruzzella
authors.forename: Mila
authors.initials: M
authors.lastname: Tommaseo-Ponzetta
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Gasparre
authors.forename: Marcella
authors.initials: M
authors.lastname: Attimonelli
mesh_terms: D000465:Algorithms; D004272:DNA, Mitochondrial / Q000737:chemistry*; D030561:Databases, Nucleic Acid; D014644:Genetic Variation; D054629:Genome, Mitochondrial; D023281:Genomics; D006801:Humans; D058977:Molecular Sequence Annotation; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D012984:Software
chemical_list: D004272:DNA, Mitochondrial