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Article

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

BMC bioinformatics - 27 Aug 2009

Bhardwaj Anshu, Mukerji Mitali, Sharma Shipra, Paul Jinny, Gokhale Chaitanya S, Srivastava Achal K, Tiwari Shrish

Abstract excerpt

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...

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PMID: 19758471
DOI: 10.1186/1471-2105-10-S8-S7
PMCID: PMC2745589

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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