Description
GAVIN gene-specific thresholds used in the benchmark. This table can be used to look up thresholds of individual genes and allow variant interpretation by following classification rules as indicated by the column names and provided explanation. (XLSX 198 kb)
| Date made available | 16-Jan-2017 |
|---|---|
| Publisher | figshare |
Keywords on Datasets
- Clinical next-generation sequencing
- Variant classification
- Automated protocol
- Gene-specific calibration
- Allele frequency
- Protein impact
- Pathogenicity prediction
Research output
- 1 Article
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GAVIN: Gene-Aware Variant INterpretation for medical sequencing
van der Velde, K. J., de Boer, E. N., van Diemen, C. C., Sikkema-Raddatz, B., Abbott, K. M., Knopperts, A., Franke, L., Sijmons, R. H., de Koning, T. J., Wijmenga, C., Sinke, R. J. & Swertz, M. A., 16-Jan-2017, In: Genome Biology. 18, 1, 10 p., 6.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile58 Citations (Scopus)471 Downloads (Pure)
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