tierupreanalyses Tier 3 variants in undiagnosed GeL rare disease cases.
tierupanswers the following questions derived from the GeL tiering rules:
tier_tierupcolumn in the results file contains the new variant tier determined by tierup. Each row is a report event for a variant in the proband. Note: The same variant may have multiple report events depending on the number of assigned gene panels, mode of inheritance and penetrance models analysed.
tierupinput is limited to undiagnosed rare disease cases. The tool therefore raises an error if users attempt to process a solved case.
tierupdoes not analyse CNVs
tierupdoes not account for information on variant penetrance