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Mitochondrial DNA Sequencing and Heteroplasmy Quantification by Next Generation Sequencing.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2023

Legati Andrea, Ghezzi Daniele, Viscomi Carlo

Abstract excerpt

Over the last 10 years, next generation sequencing (NGS) became the gold standard for both diagnosis and discovery of new disease genes responsible for heterogeneous disorders, such as mitochondrial encephalomyopathies. The application of this technology to mtDNA mutations poses extra challenges compared to other genetic conditions because of the peculiarities of mitochondrial genetics and the requirement for...

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PMID: 36807805
DOI: 10.1007/978-1-0716-2922-2_26

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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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