TY - JOUR T1 - GeMSTONE: Orchestrated Prioritization of Human Germline Mutations in the Cloud JF - bioRxiv DO - 10.1101/052001 SP - 052001 AU - Siwei Chen AU - Juan Felipe Beltrán AU - Xiaomu Wei AU - Steven Lipkin AU - Clara Esteban-Jurado AU - Sebastià Franch-Expósito AU - Sergi Castellví-Bel AU - Haiyuan Yu Y1 - 2016/01/01 UR - http://biorxiv.org/content/early/2016/05/06/052001.abstract N2 - 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 cloud-based 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. ER -