Accurate and comprehensive analysis of single nucleotide variants and large deletions of the human mitochondrial genome in DNA and single cells

Massive parallel sequencing (MPS) can accurately quantify mitochondrial DNA (mtDNA) single nucleotide variants (SNVs), but no MPS methods are currently validated to simultaneously and accurately establish the breakpoints and frequency of large deletions at low heteroplasmic loads. Here we present th...

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Veröffentlicht in:Eur J Hum Genet
Hauptverfasser: Zambelli, Filippo, Vancampenhout, Kim, Daneels, Dorien, Brown, Daniel, Mertens, Joke, Van Dooren, Sonia, Caljon, Ben, Gianaroli, Luca, Sermon, Karen, Voet, Thierry, Seneca, Sara, Spits, Claudia
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2017
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5643964/
https://ncbi.nlm.nih.gov/pubmed/28832570
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.129
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