Article
Accurate and comprehensive analysis of single nucleotide variants and large deletions of the human mitochondrial genome in DNA and single cells.
European journal of human genetics : EJHG - 1 Nov 2017
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
Abstract excerpt
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 the thorough validation of an MPS protocol to quantify the load of very low frequency, large mtDNA deletions in bulk...
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