Article
From next-generation sequencing alignments to accurate comparison and validation of single-nucleotide variants: the pibase software.
Nucleic acids research - 7 Jan 2013
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
Abstract excerpt
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 in...
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