Genomic Analysis News

CBMi Bioinformatics Core Relaunches Mitomaster with New interface and Functionality

Inherited mutations in the DNA of mitochondria, the body's "cellular power plants", are responsible for a surprisingly wide variety of disorders that affect children and adults. Despite its small size (16kbp), the mitochondrial genome, which is independent of the cell's nuclear DNA, is the host to thousands of known mutations. For researchers and clinicians, identifying mitochondrial mutations potentially inherited illnesses is critical to making a correct diagnosis. As part of their research into mitochondrial diseases, CHOP researcher Doug Wallace and his associates have been collecting and curating mitochondrial mutations for almost two decades in their MITOMAP database.

The ability to screen newly sequenced mitochondrial genomes from patients will become increasingly important as molecular diagnostics becomes standard practice. Mitomaster is a web application that allows users to submit clinical mitochondrial sequences to find mutations - known and novel. Mitomaster calculates the predicted coding effect of mutations and performs lookups against the MITOMAP database. The tool also allows users to identify the "haplogroup" or ancestry of submitted mitochondrial sequences.

Under the guidance of the Wallace lab at CHOP's Center for Mitochondrial and Epigenomic Medicine, developers in the CBMi Bioinformatics Core have updated and relaunched the Mitomaster tool to add new functionality and a new user interface. Dr. Douglas Wallace will be presenting Mitomaster at the Paris UNESCO conference June 11, 2012.