title: MitoVariome: a variome database of human mitochondrial DNA.
abstract: BACKGROUND
  Mitochondrial sequence variation provides critical information for studying human evolution and variation. Mitochondrial DNA provides information on the origin of humans, and plays a substantial role in forensics, degenerative diseases, cancers, and aging process. Typically, human mitochondrial DNA has various features such as HVSI, HVSII, single-nucleotide polymorphism (SNP), restriction enzyme sites, and short tandem repeat (STR).
  
  
  RESULTS
  We present a variome database (MitoVariome) of human mitochondrial DNA sequences. Queries against MitoVariome can be made using accession numbers or haplogroup/continent. Query results are presented not only in text but also in HTML tables to report extensive mitochondrial sequence variation information. The variation information includes repeat pattern, restriction enzyme site polymorphism, short tandem repeat, disease information as well as single nucleotide polymorphism. It also provides a graphical interface as Gbrowse displaying all variations at a glance. The web interface also provides the tool for assigning haplogroup based on the haplogroup-diagnostic system with complete human mitochondrial SNP position list and for retrieving sequences that users query against by using accession numbers.
  
  
  CONCLUSIONS
  MitoVariome is a freely accessible web application and database that enables human mitochondrial genome researchers to study genetic variation in mitochondrial genome with textual and graphical views accompanied by assignment function of haplogrouping if users submit their own data. Hence, the MitoVariome containing many kinds of variation features in the human mitochondrial genome will be useful for understanding mitochondrial variations of each individual, haplogroup, or geographical location to elucidate the history of human evolution.
authors: Korean Bioinformation Center (KOBIC), KRIBB, Daejeon 305-806, Korea. yslee@kribb.re.kr
authors: Yong Seok
authors: YS
authors: Lee
authors: Woo-Yeon
authors: WY
authors: Kim
authors: Mihyun
authors: M
authors: Ji
authors: Ji Han
authors: JH
authors: Kim
authors: Jong
authors: J
authors: Bhak
mesh_terms: D004272:DNA, Mitochondrial / Q000032:analysis* / Q000235:genetics; D030561:Databases, Nucleic Acid; D023281:Genomics; D006801:Humans; D020407:Internet; D020641:Polymorphism, Single Nucleotide
chemical_list: D004272:DNA, Mitochondrial