Protocol for the assessment, improvement, and harmonization of somatic variant calling using ONCOLINER

STAR Protoc. 2024 Dec 20;6(1):103533. doi: 10.1016/j.xpro.2024.103533. Online ahead of print.

Abstract

The interoperability of variant identification pipelines is fundamental for achieving consistent clinical care across oncology research centers and hospitals. Here, we present a protocol for using ONCOLINER, a platform for the assessment, improvement, and harmonization of somatic variant discovery of multiple pipelines. We describe steps for acquiring benchmarking datasets and executing the user variant calling pipeline. We then detail the procedures for performing analyses to produce user-friendly reports showing the quality, scope, and applicable improvements for each tumor genome analysis. For complete details on the use and execution of this protocol, please refer to Martín et al.1.

Keywords: bioinformatics; cancer; genomics.