The latest study from the Jill Roberts Institute, "CX3CR1+ mononuclear phagocytes control immunity to intestinal fungi," was published on January 11 in Science. To read more, click here.  Dr. Gregory Sonnenberg wins inaugural award from the Society for Mucosal Immunology. To read more, click here.  The Kenneth Rainin Foundation awarded Dr. Iliyan Iliev and colleagues from Mount Sinai a $250,000 Synergy Award to examine the composition of the fungal community in babies born to mothers with inflammatory bowel disease. To read more, click here. Dr. Randy Longman received the Irma T. Hirschl Career Scientist Award and the New York Crohn’s Foundation Award.    

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
PubMed Central IDPMC5556704
Grant ListUL1 TR000457 / TR / NCATS NIH HHS / United States