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  • 1.
    Clima, Rosanna
    et al.
    Univ Bari,Italy ; Univ Bologna, Italy.
    Preste, Roberto
    Univ Bari, Italy.
    Calabrese, Claudia
    European Bioinformat Inst EMBL Outstn Hinxton, UK.
    Diroma, Maria Angela
    Univ Bari, Italy.
    Santorsola, Mariangela
    Univ Bari, Italy.
    Scioscia, Gaetano
    IBM Italia SpA, Italy ; MBLab Bari, Italy.
    Simone, Domenico
    Linnaeus University, Faculty of Health and Life Sciences, Department of Biology and Environmental Science.
    Shen, Lishuang
    Childrens Hosp Los Angeles, USA.
    Gasparre, Giuseppe
    Univ Bologna, Italy.
    Attimonelli, Marcella
    Univ Bari, Italy.
    HmtDB 2016: data update, a better performing query system and human mitochondrial DNA haplogroup predictor2017In: Nucleic Acids Research, ISSN 0305-1048, E-ISSN 1362-4962, Vol. 45, no D1, D698-D706 p.Article in journal (Refereed)
    Abstract [en]

    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/.

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