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Article

Analyzing Low-Level mtDNA Heteroplasmy-Pitfalls and Challenges from Bench to Benchmarking.

International journal of molecular sciences - 19 Jan 2021

Fazzini Federica, Fendt Liane, Schönherr Sebastian, Forer Lukas, Schöpf Bernd, Streiter Gertraud, Losso Jamie Lee, Kloss-Brandstätter Anita, Kronenberg Florian, Weissensteiner Hansi

Abstract excerpt

Massive parallel sequencing technologies are promising a highly sensitive detection of low-level mutations, especially in mitochondrial DNA (mtDNA) studies. However, processes from DNA extraction and library construction to bioinformatic analysis include several varying tasks. Further, there is no validated recommendation for the comprehensive procedure. In this study, we examined potential pitfalls on the...

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Identifiers

PMID: 33477827
DOI: 10.3390/ijms22020935
PMCID: PMC7832847

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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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