NGS-pipe: a flexible, easily extendable, and highly configurable framework for NGS analysis

Autor: Christian Beisel, Gerhard Christofori, Ariane L. Hofmann, Thomas Wüst, Thomas Thurnherr, Daniel J. Stekhoven, Nora C. Toussaint, Holger Moch, Reinhard Dummer, Mitchell P. Levesque, Niko Beerenwinkel, Charlotte K.Y. Ng, Salvatore Piscuoglio, F. Singer, Jochen Singer, Bernd Rinn, Peter J. Wild, Andreas Papassotiropoulos, Markus G. Manz, Wilhelm Krek, Michael N. Hall, Hans-Joachim Ruscheweyh
Přispěvatelé: University of Zurich, Beerenwinkel, Niko
Rok vydání: 2018
Předmět:
0301 basic medicine
Statistics and Probability
1303 Biochemistry
Computer science
Genomic data
Genomics
610 Medicine & health
computer.software_genre
Biochemistry
03 medical and health sciences
Neoplasms
10049 Institute of Pathology and Molecular Pathology
1312 Molecular Biology
1706 Computer Science Applications
Humans
2613 Statistics and Probability
Adaptation (computer science)
Molecular Biology
Sequence Analysis
RNA

Gene Expression Profiling
High-Throughput Nucleotide Sequencing
Reproducibility of Results
10177 Dermatology Clinic
Sequence Analysis
DNA

Genome Analysis
Applications Notes
Transcriptome Sequencing
Computer Science Applications
Computational Mathematics
030104 developmental biology
Computational Theory and Mathematics
Dermatology clinic
10032 Clinic for Oncology and Hematology
Data mining
computer
2605 Computational Mathematics
Software
1703 Computational Theory and Mathematics
Zdroj: Bioinformatics, 34 (1)
Bioinformatics
ISSN: 1367-4803
1460-2059
DOI: 10.5451/unibas-ep56308
Popis: Motivation Next-generation sequencing is now an established method in genomics, and massive amounts of sequencing data are being generated on a regular basis. Analysis of the sequencing data is typically performed by lab-specific in-house solutions, but the agreement of results from different facilities is often small. General standards for quality control, reproducibility and documentation are missing. Results We developed NGS-pipe, a flexible, transparent and easy-to-use framework for the design of pipelines to analyze whole-exome, whole-genome and transcriptome sequencing data. NGS-pipe facilitates the harmonization of genomic data analysis by supporting quality control, documentation, reproducibility, parallelization and easy adaptation to other NGS experiments.
Bioinformatics, 34 (1)
ISSN:1367-4803
ISSN:1460-2059
Databáze: OpenAIRE