VCFcache blueprint gnomAD v4.1 joint GRCh38 (AF ≥ 0.001)

Abstract VCFcache blueprint derived from gnomAD v4.1 joint frequency data (GRCh38). Note This blueprint does not contain annotations. A combined cache+blueprint bundle can be downloaded from the corresponding cache record. See https://github.com/vcftools/vcfcache for more information. Contents This blueprint contains 99.9M high-quality variant sites filtered to allele frequency (AF) ≥ 0.001 (0.1% or 1 in 1000 individuals). All genotype and INFO fields have been removed, retaining only genomic positions (CHROM, POS, REF, ALT). Multiallelic sites have been split into separate records. Technical detailsCoverage: chr1-22, chrX, chrYSource: gnomAD v4.1.0 joint frequency (807,162 samples)Processing: AF-filtered (≥1%), normalized, GT/INFO removed, multiallelics split Purpose This blueprint serves as a foundation for building annotation caches with tools like VEP, SnpEff, or bcftools +split-vep, enabling rapid annotation of sample VCFs by pre-annotating common variants (≥1% population frequency). Setup: vcfcache blueprint-init --doi <DOI> -o <output_dir> Usage: vcfcache cache-build --db <blueprint_dir> -a annotation.yaml -n <name> Documentation: VCFcache wiki