|Title||GeMSTONE: orchestrated prioritization of human germline mutations in the cloud.|
|Publication Type||Journal Article|
|Year of Publication||2017|
|Authors||Chen, S, Beltrán, JF, Esteban-Jurado, C, Franch-Expósito, S, Castellví-Bel, S, Lipkin, S, Wei, X, Yu, H|
|Journal||Nucleic Acids Res|
|Date Published||2017 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 (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.
|Alternate Journal||Nucleic Acids Res.|