VCFcache blueprint gnomAD v4.1 joint GRCh38 (AF ≥ 0.1)
Abstract
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. Contents This blueprint contains 8.1M high-quality variant sites filtered to allele frequency (AF) ≥ 0.1 (10% or 1 in 10 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 -o Usage: vcfcache cache-build --db -a annotation.yaml -n Documentation: VCFcache wiki
Publication details
- Journal / source
- Zenodo (CERN European Organization for Nuclear Research)
- Publication date
- 9 January 2026
- Document type
- Dataset