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

Abstract excerpt

<h4>Summary</h4> Whole-genome sequencing (WGS) is a cornerstone of precision medicine, but portable and reproducible open-source workflows for WGS analyses of germline and somatic variants are lacking. We present Sarek, a modular, comprehensive, and easy-to-install workflow, combining a range of software for the identification and annotation of single-nucleotide variants (SNVs), insertion and deletion variants (i...

Topics

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• Computational Biology
• Exome Sequencing
• High-Throughput Nucleotide Sequencing
• Mutation
• Neoplasms
• Polymorphism, Single Nucleotide
• Software
• Whole Genome Sequencing

Identifiers and source

Literature Corpus work

23f4aa76-fedd-573f-ae39-4ed3886e79c4

DOI

10.1101/316976