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. AVAILABILITY AND IMPLEMENTATION: https://github.com/cbg-ethz/NGS-pipe. CONTACT: niko.beerenwinkel@bsse.ethz.ch.
NGS-pipe: a flexible, easily extendable and highly configurable framework for NGS analysis
NG K;Piscuoglio Salvatore;
2018-01-01
Abstract
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. AVAILABILITY AND IMPLEMENTATION: https://github.com/cbg-ethz/NGS-pipe. CONTACT: niko.beerenwinkel@bsse.ethz.ch.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
