The latest study from the Jill Roberts Institute, "A Cellular Tango: Immune and Nerve Cells Work Together to Fight Gut Infections," was published on September 6 in Nature. To read more, click here.     Dr. Gregory Sonnenberg wins inaugural award from the Society for Mucosal Immunology. To read more, click here.        

The Jill Roberts Institute for Research in Inflammatory Bowel Disease

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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

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.

Alternate JournalNucleic Acids Res.
PubMed ID28521008