From next-generation sequencing alignments to accurate comparison and validation of single-nucleotide variants: the pibase software

Scientists working with single-nucleotide variants (SNVs), inferred by next-generation sequencing software, often need further information regarding true variants, artifacts and sequence coverage gaps. In clinical diagnostics, e.g. SNVs must usually be validated by visual inspection or several indep...

Täydet tiedot

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Bibliografiset tiedot
Päätekijät: Forster, Michael, Forster, Peter, Elsharawy, Abdou, Hemmrich, Georg, Kreck, Benjamin, Wittig, Michael, Thomsen, Ingo, Stade, Björn, Barann, Matthias, Ellinghaus, David, Petersen, Britt-Sabina, May, Sandra, Melum, Espen, Schilhabel, Markus B., Keller, Andreas, Schreiber, Stefan, Rosenstiel, Philip, Franke, Andre
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Oxford University Press 2013
Aiheet:
Methods Online
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3592472/
https://ncbi.nlm.nih.gov/pubmed/22965131
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gks836
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