title: HmtDB 2016: data update, a better performing query system and human mitochondrial DNA haplogroup predictor.
abstract: The HmtDB resource hosts a database of human mitochondrial genome sequences from individuals with healthy and disease phenotypes. The database is intended to support both population geneticists as well as clinicians undertaking the task to assess the pathogenicity of specific mtDNA mutations. The wide application of next-generation sequencing (NGS) has provided an enormous volume of high-resolution data at a low price, increasing the availability of human mitochondrial sequencing data, which called for a cogent and significant expansion of HmtDB data content that has more than tripled in the current release. We here describe additional novel features, including: (i) a complete, user-friendly restyling of the web interface, (ii) links to the command-line stand-alone and web versions of the MToolBox package, an up-to-date tool to reconstruct and analyze human mitochondrial DNA from NGS data and (iii) the implementation of the Reconstructed Sapiens Reference Sequence (RSRS) as mitochondrial reference sequence. The overall update renders HmtDB an even more handy and useful resource as it enables a more rapid data access, processing and analysis. HmtDB is accessible at http://www.hmtdb.uniba.it/.
authors.affiliation: Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari, 70126 Bari, Italy.|Department of Medical and Surgical Sciences-DIMEC, Medical Genetics Unit, University of Bologna, 40126 Bologna, Italy.
authors.forename: Rosanna
authors.initials: R
authors.lastname: Clima
authors.affiliation: Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari, 70126 Bari, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Preste
authors.affiliation: European Bioinformatics Institute EMBL Outstation - Hinxton, Wellcome Trust Genome Campus, Cambridge, CB10 1SD, UK.
authors.forename: Claudia
authors.initials: C
authors.lastname: Calabrese
authors.affiliation: Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari, 70126 Bari, Italy.
authors.forename: Maria Angela
authors.initials: MA
authors.lastname: Diroma
authors.affiliation: Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari, 70126 Bari, Italy.
authors.forename: Mariangela
authors.initials: M
authors.lastname: Santorsola
authors.affiliation: IBM Italia S.p.A., GBS BAO Advanced Analytics Services and MBLab Bari, Italy.
authors.forename: Gaetano
authors.initials: G
authors.lastname: Scioscia
authors.affiliation: Department of Biology and Environmental Science, Centre for Ecology and Evolution in Microbial model Systems (EEMiS), Linnaeus University, Barlastgatan 11, Kalmar, Sweden.
authors.forename: Domenico
authors.initials: D
authors.lastname: Simone
authors.affiliation: Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California, CA 90027, USA.
authors.forename: Lishuang
authors.initials: L
authors.lastname: Shen
authors.affiliation: Department of Medical and Surgical Sciences-DIMEC, Medical Genetics Unit, University of Bologna, 40126 Bologna, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Gasparre
authors.affiliation: Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari, 70126 Bari, Italy marcella.attimonelli@uniba.it.
authors.forename: Marcella
authors.initials: M
authors.lastname: Attimonelli
mesh_terms: D004272:DNA, Mitochondrial; D030561:Databases, Nucleic Acid; D054629:Genome, Mitochondrial; D023281:Genomics / Q000379:methods*; D006239:Haplotypes; D006801:Humans; D008928:Mitochondria / Q000235:genetics*; D057386:Search Engine; D012984:Software; D064878:Web Browser
chemical_list: D004272:DNA, Mitochondrial