Article
appreci8: a pipeline for precise variant calling integrating 8 tools.
Bioinformatics (Oxford, England) - 15 Dec 2018
Sandmann Sarah, Karimi Mohsen, de Graaf Aniek O, Rohde Christian, Göllner Stefanie, Varghese Julian, Ernsting Jan, Walldin Gunilla, van der Reijden Bert A, Müller-Tidow Carsten, Malcovati Luca, Hellström-Lindberg Eva, Jansen Joop H, Dugas Martin
Abstract excerpt
Motivation: The application of next-generation sequencing in research and particularly in clinical routine requires valid variant calling results. However, evaluation of several commonly used tools has pointed out that not a single tool meets this requirement. False positive as well as false negative calls necessitate additional experiments and extensive manual work. Intelligent combination and output filtration...
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