HmtDB is an open resource created to support population genetics and mitochondrial disease studies. The database hosts human mitochondrial genome sequences annotated with population and variability data, the latter being estimated through the application of the SiteVar/MitVarProt programs, based on site-specific nucleotide and aminoacid variability calculations. The annotations are manually curated thus adding value to the quality of the information provided to the end-user.
Classifier tools implemented in HmtDB allow the prediction of the haplogroup for any human mitochondrial genome currently stored in HmtDB or externally submitted de novo by an end-user. Haplogroup definition is based on the Phylotree system.
End-users accessing HmtDB are hence allowed to:
HmtDB contains human mitochondrial genomes derived from the public primary INSDC databases, personal submissions and from the application of the MToolBox pipeline to NGS data, such as genomes coming from the 1000Genomes project.
Genomes associated to population studies are stored and analyzed as a whole dataset (healthy) and grouped in continent-specific subsets (AF: Africa, AM: America, AS: Asia, EU: Europe, OC: Oceania). Genomes from subjects affected by diseases are reported in a separate dataset annotated as pathologic. The number of genomes of each dataset is available through the Statistics page.