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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Eur J Hum Genet
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2017
Témata:
Article
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky