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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2013
Materias:
Methods Online
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3592472/
https://www.ncbi.nlm.nih.gov/pubmed/22965131
http://dx.doi.org/10.1093/nar/gks836

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3592472/
https://www.ncbi.nlm.nih.gov/pubmed/22965131
http://dx.doi.org/10.1093/nar/gks836

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