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URL: http://www.hmtdb.uniba.it
Proper Citation: HmtDB - Human Mitochondrial DataBase (RRID:SCR_007713)
Description: A human mitochondrial resource aimed at supporting population genetics and mitochondrial disease studies. It consists of a database of Human Mitochondrial Genomes annotated with population and variability data, the latter estimated through the application of a new approach based on site-specific nucleotidic and aminoacidic variability calculation (SiteVar and MitVarProt programs). The goals of HmtDB are: to collect and integrate the publicly available human mitochondrial genomes data; to produce and provide the scientific community with site-specific nucleotidic and aminoacidic variability data estimated on all the collected human mitochondrial genome sequences; to allow any researcher to analyse his own human mitochondrial sequences (both complete and partial mitochondrial genomes) in order to automatically detect the nucleotidic variants compared to the revised Cambridge Reference Sequence (rCRS) and to predict their haplogroup paternity. HmtDBs first release contains 1255 human mitochondrial genomes derived from public databases (GenBank and MitoKor). The genomes have been stored and analysed as a whole dataset and grouped in continent-specific subsets (AF: Africa, AM: America, AS: Asia, EU: Europe, OC: Oceania). :The multialignment and site-variability analysis tools included in HmtDB are clustered in two Work Flows: the Variability Generation Work Flow (VGWF) and the Classification Work Flow (CWF), which are applied both to human mitochondrial genomes stored in the database and to newly sequenced genomes submitted by the user, respectively.
Synonyms: HmtDB
Resource Type: database, data or information resource
Keywords: mitochondrial disease, mitochondrial dna, mtdna
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