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Article

Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2014

Griffin Helen R, Pyle Angela, Blakely Emma L, Alston Charlotte L, Duff Jennifer, Hudson Gavin, Horvath Rita, Wilson Ian J, Santibanez-Koref Mauro, Taylor Robert W, Chinnery Patrick F

Abstract excerpt

PURPOSE: Mitochondrial disorders are a common cause of inherited metabolic disease and can be due to mutations affecting mitochondrial DNA or nuclear DNA. The current diagnostic approach involves the targeted resequencing of mitochondrial DNA and candidate nuclear genes, usually proceeds step by...

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PMID: 24901348
DOI: 10.1038/gim.2014.66
PMCID: PMC4272251

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24901348-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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