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Article

Considering DNA damage when interpreting mtDNA heteroplasmy in deep sequencing data.

Forensic science international. Genetics - 1 Jan 2017

Rathbun Molly M, McElhoe Jennifer A, Parson Walther, Holland Mitchell M

Abstract excerpt

Resolution of mitochondrial (mt) DNA heteroplasmy is now possible when applying a massively parallel sequencing (MPS) approach, including minor components down to 1%. However, reporting thresholds and interpretation criteria will need to be established for calling heteroplasmic variants that address a number of important topics, one of which is DNA damage. We assessed the impact of increasing amounts of DNA...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27718383
DOI: 10.1016/j.fsigen.2016.09.008

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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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