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

200925 citationsJournal Articlegold Open Access

Authors

Anshu Bhardwaj · Institute of Genomics and Integrative Biology

Mitali Mukerji · Institute of Genomics and Integrative Biology

Shipra Sharma · Institute of Genomics and Integrative Biology

Jinny Paul · Institute of Genomics and Integrative Biology

Chaitanya S. Gokhale · Max Planck Institute for Evolutionary Biology

Achal Kumar Srivastava · All India Institute of Medical Sciences

Abstract

We have developed a novel and comprehensive method for evaluation of mitochondrial variation and their involvement in disease. Our method has the most comprehensive set of parameters to assess mtDNA variations and overcomes the undesired bias generated as a result of better-studied diseases and genes. These variations can be prioritized for functional assays to confirm their pathogenic status.

Topics & Keywords

Mitochondrial Function and Pathology Metabolism and Genetic Disorders Metabolomics and Mass Spectrometry Studies

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: BMC Bioinformatics

Volume 10, Issue S8, pp. S7-S7

DOI: 10.1186/1471-2105-10-s8-s7

Field-Weighted Citation Impact: 1.08