GeMSTONE: orchestrated prioritization of human germline mutations in the cloud

Integrative analysis of whole-genome/exome-sequencing data has been challenging, especially for the non-programming research community, as it requires leveraging an inordinate number of computational tools. Even computational biologists find it unexpectedly difficult to reproduce results from others or optimize their own strategies in an end-to-end workflow. We introduce Germline Mutation Scoring Tool fOr Next-generation sEquencing data (GeMSTONE), a cloudbased variant prioritization tool with high-level customization and a comprehensive collection of bioinformatics tools and data libraries (http://gemstone.yulab.org/). GeMSTONE generates and readily accepts a sharable “recipe” file for each run to either replicate existing results or analyze new data with identical parameters. peer-reviewed) is the author/funder. All rights reserved. No reuse allowed without permission. The copyright holder for this preprint (which was not . http://dx.doi.org/10.1101/052001 doi: bioRxiv preprint first posted online May. 6, 2016;