Title
Hmtdb, A Genomic Resource For Mitochondrion-Based Human Variability Studies
Abstract
HmtDB (>http://www.hmtdb.uniba.it:8080/hmdb) is a 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 software based on site-specific nucleotide and amino acid 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 (i) browse the database through the use of a multi-criterion 'query' system; (ii) analyze their own human mitochondrial sequences via the 'classify' tool (for complete genomes) or by downloading the 'fragment-classifier' tool (for partial sequences); (iii) download multi-alignments with reference genomes as well as variability data.
Year
DOI
Venue
2012
10.1093/nar/gkr1086
NUCLEIC ACIDS RESEARCH
Keywords
Field
DocType
genetic variation,sequence alignment,genomics,algorithms
Genome,Sequence alignment,Population,Biology,Haplogroup,Genomics,Molecular Sequence Annotation,Genetics,Reference genome,Human mitochondrial genetics
Journal
Volume
Issue
ISSN
40
D1
0305-1048
Citations 
PageRank 
References 
6
0.97
7
Authors
10