Name
Abstract | ||
|---|---|---|
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 endto- 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. |
Year | DOI | Venue |
|---|---|---|
2017 | 10.1093/nar/gkx398 | NUCLEIC ACIDS RESEARCH |
Field | DocType | Volume |
Biology,Prioritization,Bioinformatics,Germline mutation,Workflow,Personalization,Cloud computing | Journal | 45 |
Issue | ISSN | Citations |
W1 | 0305-1048 | 0 |
PageRank | References | Authors |
0.34 | 15 | 8 |
Name | Order | Citations | PageRank |
|---|---|---|---|
| Siwei Chen | 1 | 0 | 0.34 |
| Juan Felipe Beltran | 2 | 2 | 1.05 |
| Clara Esteban-Jurado | 3 | 0 | 0.34 |
| Sebastià Franch-Expósito | 4 | 0 | 0.68 |
| Sergi Castellví-Bel | 5 | 0 | 0.68 |
| Steven Lipkin | 6 | 0 | 0.68 |
| Xiaomu Wei | 7 | 0 | 0.34 |
| Haiyuan Yu | 8 | 371 | 24.42 |