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Accurate mapping of mitochondrial DNA deletions and duplications using deep sequencing
Swaraj Basu 1, Xie Xie 1, Jay P Uhler 1, Carola Hedberg-Oldfors 2, Dusanka Milenkovic 3, Olivier R Baris 4 5, Sammy Kimoloi 4, Stanka Matic 3, James B Stewart 3 6, Nils-Göran Larsson 7, Rudolf J Wiesner 4 8, Anders Oldfors 2, Claes M Gustafsson 1, Maria Falkenberg 1, Erik Larsson 1
Abstract:
...Here we establish a computational method, MitoSAlt, for accurate identification, quantification and visualization of mtDNA deletions and duplications from genomic sequencing data. Our method was tested on simulated sequencing reads and human patient samples with single deletions and duplications to verify its accuracy. Application to mouse models of mtDNA maintenance disease demonstrated the ability to detect deletions and duplications even at low levels of heteroplasmy.
PMID: 33315859
Free Full-Text: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7769605/
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