Man pages for SandersKM/MendelianVariants
| 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 |
