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Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2013

Cui Hong, Li Fangyuan, Chen David, Wang Guoli, Truong Cavatina K, Enns Gregory M, Graham Brett, Milone Margherita, Landsverk Megan L, Wang Jing, Zhang Wei, Wong Lee-Jun C

Abstract excerpt

PURPOSE: The application of massively parallel sequencing technology to the analysis of the mitochondrial genome has demonstrated great improvement in the molecular diagnosis of mitochondrial DNA-related disorders. The objective of this study was to investigate the performance characteristics and...

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PMID: 23288206
DOI: 10.1038/gim.2012.144

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23288206-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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