MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease.

ABSTRACT:

Background

Human mitochondrial DNA (mtDNA) variations have been implicated in a broad spectrum of diseases. With over 3000 mtDNA variations reported across databases, establishing pathogenicity of variations in mtDNA is a major challenge. We have designed and developed a comprehensive weighted scoring system (MtSNPscore) for identification of mtDNA variations that can impact pathogenicity and would likely be associated with disease. The criteria for pathogenicity include information available in the literature, predictions made by various in silico tools and frequency of variation in normal and patient datasets. The scoring scheme also assigns scores to patients and normal individuals to estimate the cumulative impact of variations. The method has been implemented in an automated p

SUBMITTER: Bhardwaj A 

PROVIDER: S-EPMC2745589 | biostudies-literature | 2009 Aug

REPOSITORIES: biostudies-literature