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...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2013
Sujets:
Methods Online
Accès en ligne: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
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires