parse_vcf_output()
Parse a VCF file and return a data frame with standardised fields across callers
parse_vep_csq()
Parse the CSQ field added to the `VCF` file by the Variant Effect Predictor (VEP)
import_clinical()
Import clinical information for a patient
import_goi_superfreq()
Extract SNVs, CNVs and clones on genes of interest from superFreq output
example_metadata
Example matadata.
example_variants
Example variants.