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GeMSTONE: orchestrated prioritization of human germline mutations in the cloud.

TitleGeMSTONE: orchestrated prioritization of human germline mutations in the cloud.
Publication TypeJournal Article
Year of Publication2017
AuthorsChen, S, Beltrán, JF, Esteban-Jurado, C, Franch-Expósito, S, Castellví-Bel, S, Lipkin, S, Wei, X, Yu, H
JournalNucleic Acids Res
Date Published2017 May 18
ISSN1362-4962
Abstract

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 (http://gemstone.yulab.org/). 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.

DOI10.1093/nar/gkx398
Alternate JournalNucleic Acids Res.
PubMed ID28521008