The "Identify Known Variants in One Sample" ready-to-use workflow is a combined data analysis and interpretation ready-to-use workflow.
It should be used to identify known variants, specified by the user (e.g. known breast cancer associated variants), for their presence or absence in a sample.
Please note that the ready-to-use workflow will not identify new variants.
The Identify Known Variants in One Sample ready-to-use workflow runs an internal workflow that maps the sequencing reads to the human genome sequence and does a local realignment of the mapped reads to improve the following variant detection. Next, specified variants by the user are identified in the read mapping. At the end, information present on the known variants before, are added to the results.
- Import your known variants
- Import your targeted regions
- How to run the "Identify Known Variants in One Sample" ready-to-use workflow
- Output from the Identify Known Variants in One Sample