Abstract
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.
X.W., S.L. and H.Y. conceived of the GeMSTONE concept. S.C. designed and implemented the GeMSTONE pipeline with supervision and input from H.Y. and X.W. J.F.B. designed and implemented the GeMSTONE web interface. C.E.J., S.F.E. and S.C.B. provided CRC study datasets and the original study design. J.F.B., S.C. and H.Y. wrote the manuscript. All authors reviewed and approved the final manuscript as submitted.
The authors declare no competing financial interests.
