The Identify Known Mutations from Sample Mappings tool can be used to look up known genomic variants in read mappings. This can be done in one or more samples by comparing a track of known variants with the read mappings of interest in order to test for the presence or absence of clinical (or other relevant) variants in e.g. patient samples.
The Identify Known Mutations from Sample Mappings tool does not perform any kind of variant calling, which means that this tool cannot be used to find de novo variants. Rather, the tool is intended for identification of variants that have already been reported and described regarding potential clinical relevance.
- Input and Parameters
- Output from the "Identify Known Mutations from Sample Mappings" tool
- How to run the "Identify Known Mutations from Sample Mappings" tool