tierup
reanalyses Tier 3 variants in undiagnosed GeL rare disease cases.tierup
answers the following questions derived from the GeL tiering rules:tierup
output CSV.tier_tierup
column 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.tierup
input is limited to undiagnosed rare disease cases. The tool therefore raises an error if users attempt to process a solved case.tierup
does not analyse CNVstierup
does not account for information on variant penetrance