Gene-based burden test results of loss of function variants (LoFs).
Variant Selection
Loss of function (LoF) variants were generated from vcf files with VEP (https://github.com/Ensembl/ensembl-vep). LoF variants are defined as having consequences in the list [frameshift_variant,splice_donor_variant,stop_gained,splice_acceptor_variant]. Also, a max_maf (0.01) and minimum info score (0.8) filters are applied.
This leaves 3,737 genes that can be used for the association tests.
Endpoint
We used all 2,444 core binary phenotypes in the analyses.
Null Models
We used as inputs the nulls already calculated for
Association tests
Tests are performed with regenie --step2 in burden mode using a max mask (i.e. using the maximum number of ALT alleles across sites)