addVariantAnnotations | Annotate variant file from gnomAD. |
gatherDiseases | Gather diseases from MedGen. |
gatherGenes | Annotate disease-related genes |
plotScoreDistribution | Plot distribution of number of variant scores passed |
removeUnwantedVariants | Remove variants from gnomAD CSV that don't pass filters |
sortScoredVariants | Sorts variants by the number of score cutoffs passed |
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