The Identify Known Variants in One Sample (TAS 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 (TAS) ready-to-use workflow maps the sequencing reads to a human genome sequence and does a local realignment of the mapped reads to improve the subsequent variant detection. In the next step, only variants specified by the user are identified and annotated in the newly generated read mapping.
- Import your known variants
- Import your targeted regions
- How to run the Identify Known Variants in One Sample (TAS) workflow
- Output from the Identify Known Variants in One Sample (TAS)