Wightman et al. (2024) Rare variant aggregation highlights rare disease genes associated with brain volume variation.
Scripts: shell scripts used to analyse the data included in the manuscript
Summary statistics: All gene level pLOF+Missense summary statistics for all phenotypes
-*_AllTests.txt.gz contains the results for all analysis methods
-*_GENEP.txt.gz contains the results just for the GENE_P methods
-Column headers are: Gene Genename CHROM GENPOS N TEST BETA SE CHISQ LOG10P VariantCategory mask P CAF cMAC Nvariants
-VariantCategory represents whether high confidence pLOF+missense variants were used or all pLOF+missense variants
-mask represents the allele frequency mask: 0.01, 0.001, 0.0001, or singleton
-CAF represents the cumulative allele frequency
-cMAC represents the cumulative minor allele count