Figure 3

Schematic for the genome-wide biallelic, triallelic, and ClinVar-indexing pipelines. The pipelines include: indexing sites in the full VCF files to the ClinVar database (in the ClinVar-indexing pipeline only), several applications of pre-QC filters and annotations, variant-level filtration, sample-level filtration, genotype-level filtration, a recommended manual review of the final output, and study-specific statistical and association analyses.