Ontology highlight
ABSTRACT:
SUBMITTER: Forster M
PROVIDER: S-EPMC3592472 | biostudies-literature | 2013 Jan
REPOSITORIES: biostudies-literature
Forster Michael M Forster Peter P Elsharawy Abdou A Hemmrich Georg G Kreck Benjamin B Wittig Michael M Thomsen Ingo I Stade Björn B Barann Matthias M Ellinghaus David D Petersen Britt-Sabina BS May Sandra S Melum Espen E Schilhabel Markus B MB Keller Andreas A Schreiber Stefan S Rosenstiel Philip P Franke Andre A
Nucleic acids research 20120910 1
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 independent SNV-callers. We here demonstrate that 0.5-60% of relevant SNVs might not be detected due to coverage gaps, or might be misidentified. Even low error rates can overwhelm the true biological sign ...[more]