MITOMASTER: A bioinformatics tool for the analysis of mitochondrial DNA sequences

Marty C. Brandon, Eduardo Ruiz-Pesini, Dan Mishmar, Vincent Procaccio, Marie T. Lott, Kevin Cuong Nguyen, Syawal Spolim, Upen Patil, Pierre Baldi, Douglas C. Wallace

Research output: Contribution to journalArticlepeer-review

73 Scopus citations


We have developed a computer system, MITOMASTER, to make analysis of human mitochondrial DNA (mtDNA) sequences efficient, accurate, and easily available. From imported sequences, the system identifies nucleotide variants, determines the haplogroup, rules out possible pseudogene contamination, identifies novel DNA sequence variants, and evaluates the potential biological significance of each variant. This system should be beneficial for mtDNA analyses of biomedical physicians and investigators, population biologists and forensic scientists. MITOMASTER can be accessed at Mitomaster.

Original languageEnglish
Pages (from-to)1-6
Number of pages6
JournalHuman Mutation
Issue number1
StatePublished - 1 Jan 2009
Externally publishedYes


  • Bioinformatics
  • Clinical analysis
  • Mitochondria
  • Mitochondrial DNA
  • Variation
  • mtDNA

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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