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Article

Use of stereotypical mutational motifs to define resolution limits for the ultra-deep resequencing of mitochondrial DNA.

European journal of human genetics : EJHG - 1 Mar 2015

Gardner Kristian, Payne Brendan A I, Horvath Rita, Chinnery Patrick F

Abstract excerpt

Massively parallel resequencing of mitochondrial DNA (mtDNA) has led to significant advances in the study of heteroplasmic mtDNA variants in health and disease, but confident resolution of very low-level variants (<2% heteroplasmy) remains challenging due to the difficulty in distinguishing signa...

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Share to High-Throughput Nucleotide Sequencing
Share to Intestinal Pseudo-Obstruction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mitochondrial Encephalomyopathies

Share to Muscular Dystrophy, Oculopharyngeal

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Source

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Identifiers

PMID: 24896153
DOI: 10.1038/ejhg.2014.96
PMCID: PMC4326723

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24896153-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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