HmtDB, a human mitochondrial genomic resource based on variability studies supporting population genetics and biomedical research. (Articolo in rivista)

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  • HmtDB, a human mitochondrial genomic resource based on variability studies supporting population genetics and biomedical research. (Articolo in rivista) (literal)
Anno
  • 2005-01-01T00:00:00+01:00 (literal)
Alternative label
  • Attimonelli M, Accetturo M, Santamaria M, Lascaro D, Scioscia G, Pappadà G, Russo L, Zanchetta L, Tommaseo-Ponzetta M (2005)
    HmtDB, a human mitochondrial genomic resource based on variability studies supporting population genetics and biomedical research.
    in BMC bioinformatics
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Attimonelli M, Accetturo M, Santamaria M, Lascaro D, Scioscia G, Pappadà G, Russo L, Zanchetta L, Tommaseo-Ponzetta M (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 6 (literal)
Rivista
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Marcella Attimonelli(1) Matteo Accetturo(1) Monica Santamaria(1)(4) Daniela Lascaro(1) Gaetano Scioscia(2) Graziano Pappadà(2) Luigi Russo(2) Luigi Zanchetta(2) and Mila Tommaseo-Ponzetta(3) (1)Dipartimento di Biochimica e Biologia Molecolare, Università di Bari, Via E. Orabona 4, 70126 Bari (Italy) (2)Java Technology Center, IBM Semea Sud, Via Tridente 42/14, 70125 Bari (Italy) (3)Dipartimento di Zoologia, Università di Bari, Via E. Orabona 4, 70126 Bari (Italy) (4)CNR - Istituto di Tecnologie Biomediche - Sede di Bari Via Amendola 122/D, 70126 Bari (literal)
Titolo
  • HmtDB, a human mitochondrial genomic resource based on variability studies supporting population genetics and biomedical research. (literal)
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. 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. CONCLUSION: 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. (literal)
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