In this study, we sequenced the full-length GBA gene on the Oxford Nanopore GridION as an 8.9 kb amplicon and determined the frequency of GBA variants in Norwegian patients with PD and healthy control
We included genes that had at least one child but nor more than two with a potentially damaging variant. Scores provided by VarElect, our ranked version of the VarElect scores, and our overall ranking
This dataset is from the paper "Extracting and calibrating evidence of variant pathogenicity from population biobank data", which evaluates the broad potential of using population cohort data as evide
