74 Mitomaster – Analytical tool for clinical mitochondrial sequence data

Martin Brandon, Vincent Procaccio, Eduardo Ruiz-Pesini, Dan Mishmar, Marie Lott, Pierre Baldi, Douglas C. Wallace

Research output: Contribution to journalMeeting Abstract


Mitomaster is a web-based tool for analyzing mitochondrial sequence
variation. Clinicians submit a mitochondrial DNA (mtDNA) sequence,
and Mitomaster returns the haplogroup of the sequence, a list of all the
variation found, coding changes that are predicted to result from those
variants, a conservation index for amino acid variants, diagrams localizing
tRNA and rRNA variants to the spatial region of the RNA molecule
affected, a prevalence ratio indicating how often the variant is observed
within the haplogroup to which the sequence belongs, a pseudogene ratio
that assists in identifying variants that may actually be sequencing artifacts, and links to known literature references. Thus, it saves the clinician
many hours of manual data manipulation, freeing them from many of the
expert details involved, and greatly improving the scope and accuracy of
the result that is achieved.
This system has evolved over more than a decade of work begun with the
Mitomap online database, and has received particularly intense development over the past six years. Development efforts to support this system have
included compiling a sequence repository and pseudogene database, programming an extensive and extendable code library, creating a web interface, and countless hours of interaction with leading clinicians,
bioinformaticians, and computer scientists. A related project (Mitowiki)
provides a wiki page used by the mitochondrial research community to disseminate sequence data and comments, and ongoing efforts are focused on
Original languageEnglish
Pages (from-to)425
StatePublished - 2007


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