GeMSTONE: orchestrated prioritization of human germline mutations in the cloud. In process uri icon



  • Integrative analysis of whole-genome/exome-sequencing data has been challenging, especially for the non-programming research community, as it requires simultaneously managing a large number of computational tools. Even computational biologists find it unexpectedly difficult to reproduce results from others or optimize their strategies in an end-to-end workflow. We introduce Germline Mutation Scoring Tool fOr Next-generation sEquencing data (GeMSTONE), a cloud-based variant prioritization tool with high-level customization and a comprehensive collection of bioinformatics tools and data libraries ( GeMSTONE generates and readily accepts a shareable 'recipe' file for each run to either replicate previous results or analyze new data with identical parameters and provides a centralized workflow for prioritizing germline mutations in human disease within a streamlined workflow rather than a pool of program executions. © The Author(s) 2017. Published by Oxford University Press on behalf of Nucleic Acids Research.

publication date

  • May 18, 2017



  • In press



  • eng

Digital Object Identifier (DOI)

  • 10.1093/nar/gkx398

PubMed ID

  • 28521008