Friederike Hanssen, Gisela Gabernet, Nicholas H. Smith, Christian Mertes, Avirup Guha Neogi, Leon Brandhoff, Anna Ossowski, Janine Altmueller, Kerstin Becker, A. Petzold, Marc Sturm, Tyll Stöcker, Sugirthan Sivalingam, Fabian Brand, Axel Schmidt, Andreas Buneß, Alexander J. Probst, Susanne Motameny, Johannes Köster,
We present the results of the human genomic small variant calling benchmarking initiative of the German Research Foundation (DFG) funded Next Generation Sequencing Competence Network (NGS-CN) and the German Human Genome-Phenome Archive (GHGA). In this effort, we developed NCBench, a continuous benchmarking platform for the evaluation of small genomic variant callsets in terms of recall, precision, and false positive/negative error patterns. NCBench is implemented as a continuously re-evaluated open- ...
Tópico(s): Bioinformatics and Genomic Networks
2023 - Faculty of 1000 | F1000Research
Friederike Hanssen, Gisela Gabernet, Famke Bäuerle, Bianca K. Stöcker, F. Wiegand, Nicholas H. Smith, Christian Mertes, Avirup Guha Neogi, Leon Brandhoff, Anna Ossowski, Janine Altmueller, Kerstin Becker, A. Petzold, Marc Sturm, Tyll Stöcker, Sugirthan Sivalingam, Fabian Brand, Axel Schmidt, Andreas Buneß, Alexander J. Probst, Susanne Motameny, Johannes Köster,
We present the results of the human genomic small variant calling benchmarking initiative of the German Research Foundation (DFG) funded Next Generation Sequencing Competence Network (NGS-CN) and the German Human Genome-Phenome Archive (GHGA). In this effort, we developed NCBench, a continuous benchmarking platform for the evaluation of small genomic variant callsets in terms of recall, precision, and false positive/negative error patterns. NCBench is implemented as a continuously re-evaluated open-source ...
Tópico(s): Molecular Biology Techniques and Applications
2024 - Faculty of 1000 | F1000Research