GeMSTONE: orchestrated prioritization of human germline mutations in the cloud.
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ABSTRACT:
SUBMITTER: Chen S
PROVIDER: S-EPMC5556704 | biostudies-literature | 2017 Jul
REPOSITORIES: biostudies-literature
Publications
GeMSTONE: orchestrated prioritization of human germline mutations in the cloud.
Chen Siwei S Beltrán Juan F JF Esteban-Jurado Clara C Franch-Expósito Sebastià S Castellví-Bel Sergi S Lipkin Steven S Wei Xiaomu X Yu Haiyuan H
Nucleic acids research 20170701 W1
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 wi ...[more]
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