Journal
FORENSIC SCIENCE INTERNATIONAL-GENETICS
Volume 15, Issue -, Pages 16-20Publisher
ELSEVIER IRELAND LTD
DOI: 10.1016/j.fsigen.2014.10.021
Keywords
Mitochondrial genome; Phylogeny; Haplogroup; Heteroplasmy; 454 Sequencing; Low-level variants
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Funding
- Polish Ministry of Science and Higher Education [N N301 075839]
- European Social Fund [20/9/POKL/4.1.1/2008, 145/UMK/09]
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Mitochondrial DNA (mtDNA) heteroplasmy has been widely described from clinical, evolutionary and analytical points of view. Historically, the majority of studies have been based on Sanger sequencing. However, next-generation sequencing technologies are now being used for heteroplasmy analysis. Ultra-deep sequencing approaches provide increased sensitivity for detecting minority variants. However, a phylogenetic a posteriori analysis revealed that most of the next-generation sequencing data published to date suffers from shortcomings. Because implementation of new technologies in clinical, population, or forensic studies requires proper verification, in this paper we present a direct comparison of ultra-deep 454 and Sanger sequencing for the detection of heteroplasmy in complete mitochondrial genomes of normal colon cells. The spectrum of heteroplasmic mutations is discussed against the background of mitochondrial DNA variability in human populations. (C) 2014 Elsevier Ireland Ltd. All rights reserved.
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