title: HmtDB, a human mitochondrial genomic resource based on variability studies supporting population genetics and biomedical research.
abstract: BACKGROUND
  Population genetics studies based on the analysis of mtDNA and mitochondrial disease studies have produced a huge quantity of sequence data and related information. These data are at present worldwide distributed in differently organised databases and web sites not well integrated among them. Moreover it is not generally possible for the user to submit and contemporarily analyse its own data comparing them with the content of a given database, both for population genetics and mitochondrial disease data.
  
  
  RESULTS
  HmtDB is a well-integrated web-based human mitochondrial bioinformatic resource aimed at supporting population genetics and mitochondrial disease studies, thanks to a new approach based on site-specific nucleotide and aminoacid variability estimation. HmtDB consists of a database of Human Mitochondrial Genomes, annotated with population data, and a set of bioinformatic tools, able to produce site-specific variability data and to automatically characterize newly sequenced human mitochondrial genomes. A query system for the retrieval of genomes and a web submission tool for the annotation of new genomes have been designed and will soon be implemented. The first release contains 1255 fully annotated human mitochondrial genomes. Nucleotide site-specific variability data and multialigned genomes can be downloaded. Intra-human and inter-species aminoacid variability data estimated on the 13 coding for proteins genes of the 1255 human genomes and 60 mammalian species are also available. HmtDB is freely available, upon registration, at http://www.hmdb.uniba.it.
  
  
  CONCLUSIONS
  The HmtDB project will contribute towards completing and/or refining haplogroup classification and revealing the real pathogenic potential of mitochondrial mutations, on the basis of variability estimation.
authors.affiliation: Dipartimento di Biochimica e Biologia Molecolare, Università di Bari, Via E. Orabona 4, 70126 Bari, Italy. m.attimonelli@biologia.uniba.it
authors.forename: Marcella
authors.initials: M
authors.lastname: Attimonelli
authors.forename: Matteo
authors.initials: M
authors.lastname: Accetturo
authors.forename: Monica
authors.initials: M
authors.lastname: Santamaria
authors.forename: Daniela
authors.initials: D
authors.lastname: Lascaro
authors.forename: Gaetano
authors.initials: G
authors.lastname: Scioscia
authors.forename: Graziano
authors.initials: G
authors.lastname: Pappadà
authors.forename: Luigi
authors.initials: L
authors.lastname: Russo
authors.forename: Luigi
authors.initials: L
authors.lastname: Zanchetta
authors.forename: Mila
authors.initials: M
authors.lastname: Tommaseo-Ponzetta
mesh_terms: D019295:Computational Biology / Q000379:methods*; D004272:DNA, Mitochondrial; D016208:Databases, Factual; D030541:Databases, Genetic; D030561:Databases, Nucleic Acid; D030562:Databases, Protein; D005828:Genetics, Population; D016678:Genome; D005838:Genotype; D006801:Humans; D016247:Information Storage and Retrieval; D020407:Internet; D024101:Mitochondrial Proteins / Q000235:genetics* / Q000502:physiology; D016415:Sequence Alignment
chemical_list: D004272:DNA, Mitochondrial; D024101:Mitochondrial Proteins