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Burden Testing Scheme
Case cohort sequencing (IHH) and control database sequencing (gnomAD) data are processed separately, and burden testing is performed in the final step. For each set of data, sequencing quality filters, predicted variant pathogenicity filters, and sample filters (e.g., ancestry) can be applied. Then, counts of qualifying variant carriers for each gene in the case and control subjects are generated. Finally, burden testing is performed.
