Learn more about the validation program for VarSome Clinical. This process will help you adopt VarSome Clinical as the end-to-end bioinformatics solution for the processing and interpretation of your NGS data.
Reference samples with known truth sets shall be included in your validation experiment - you shall include commercially available samples with a range of mutations at varying allele frequencies, and optionally, also your own samples with mutations detected with orthogonal method. With respect to the workflow that you intend to validate, we provide a series of suggested samples.
After choosing the right samples, you can acquire them following the instructions and sequence them in your lab. Your data can then be uploaded on VarSome Clinical, where they will be analyzed and you will be notified about the results.
For each pipeline validation, there is a different validation outcome, according to the provided set of verified variants. For germline samples, we evaluate the results against verified variant lists provided by GIAB in order to validate both the specificity and sensitivity of the pipeline for both SNVs and INDELs. For somatic samples, Horizon provides a set of known variants that should be found.