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Article

MitoRS, a method for high throughput, sensitive, and accurate detection of mitochondrial DNA heteroplasmy.

BMC genomics - 26 Apr 2017

Marquis Julien, Lefebvre Gregory, Kourmpetis Yiannis A I, Kassam Mohamed, Ronga Frédéric, De Marchi Umberto, Wiederkehr Andreas, Descombes Patrick

Abstract excerpt

BACKGROUND: Mitochondrial dysfunction is linked to numerous pathological states, in particular related to metabolism, brain health and ageing. Nuclear encoded gene polymorphisms implicated in mitochondrial functions can be analyzed in the context of classical genome wide association studies. By contrast, mitochondrial DNA (mtDNA) variants are more challenging to identify and analyze for several reasons. First,...

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Share to DNA, Mitochondrial
Share to High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to INDEL Mutation

Share to Nucleic Acid Amplification Techniques

Share to Polymorphism, Single Nucleotide

Share to Real-Time Polymerase Chain Reaction

Share to Sequence Analysis, DNA

Source

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Identifiers

PMID: 28441938
DOI: 10.1186/s12864-017-3695-5
PMCID: PMC5405551

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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