If licensed, VarSeq includes the support of multiple workflows under the VSClinical tabs. These guided workflows are used for the interpretation of a select number of variants and CNVs in accordance with best practice guidelines. These currently include support for the ACMG Guidelines for the interpretation of germline mutations and the AMP Guidelines for the interpretation of somatic mutations. Variants and CNVs interpreted using VSClinical can be saved to variant catalogs and clinical reports can be automatically generated using VSClinical’s reporting interface. These reports incorporate sample information, summary statistics, reported variants, CNVs, and information on the patient’s disorders and associated phenotypes.
There are two different sets of options associated with VSClinical:
Project Options: These options are associated are associated with the project as a whole and are used to configure variant catalogs, CNV catalogs, and annotation sources.
Evaluation Options: These options define the settings for newly created evaluations and are used to configure report sections, frequency thresholds, classification systems, and more.