Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants

Abstract excerpt

Whole-genome sequencing (WGS) is a fundamental technology for research to advance precision medicine, but the limited availability of portable and user-friendly workflows for WGS analyses poses a major challenge for many research groups and hampers scientific progress. Here we present Sarek, an open-source workflow to detect germline variants and somatic mutations based on sequencing data from WGS, whole-exome seq...

Topics

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• Computational Biology
• Exome Sequencing
• Genetic Testing
• Genetic Variation
• High-Throughput Nucleotide Sequencing
• Mutation
• Neoplasms
• Whole Genome Sequencing

Identifiers and source

Literature Corpus work

aae662a5-480a-5468-b3d3-f5be6c7ed53e

DOI

10.12688/f1000research.16665.2