PT  - JOURNAL ARTICLE
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
TI  - GeMSTONE: Orchestrated Prioritization of Human Germline Mutations in the Cloud
AID  - 10.1101/052001
DP  - 2016 Jan 01
TA  - bioRxiv
PG  - 052001
4099  - http://biorxiv.org/content/early/2016/05/06/052001.short
4100  - http://biorxiv.org/content/early/2016/05/06/052001.full
AB  - 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.