Cargando…
appreci8: a pipeline for precise variant calling integrating 8 tools
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 negativ...
Autores principales: | 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 |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6289140/ https://www.ncbi.nlm.nih.gov/pubmed/29945233 http://dx.doi.org/10.1093/bioinformatics/bty518 |
Ejemplares similares
-
Evaluating Variant Calling Tools for Non-Matched Next-Generation Sequencing Data
por: Sandmann, Sarah, et al.
Publicado: (2017) -
GLM-based optimization of NGS data analysis: A case study of Roche 454, Ion Torrent PGM and Illumina NextSeq sequencing data
por: Sandmann, Sarah, et al.
Publicado: (2017) -
BBCAnalyzer: a visual approach to facilitate variant calling
por: Sandmann, Sarah, et al.
Publicado: (2017) -
CopyDetective: Detection threshold–aware copy number variant calling in whole-exome sequencing data
por: Sandmann, Sarah, et al.
Publicado: (2020) -
Monocytosis and its association with clonal hematopoiesis in community-dwelling individuals
por: van Zeventer, Isabelle A., et al.
Publicado: (2022)