The Identify Variants (WES) tool takes sequencing reads as input and returns identified variants as part of a Genome Browser View.
The tool runs an internal workflow, which starts with mapping the sequencing reads to the human reference sequence. Then it runs a local realignment to improve the variant detection, which is run afterwards. At the end, variants with an average base quality smaller than 20 are filtered away.
In addition, a targeted region report is created to inspect the overall coverage and mapping specificity in the targeted regions.
- Import your targeted regions
- How to run the Identify Variants (WES) workflow
- Output from the Identify Variants (WES) workflow