VCFcache blueprint gnomAD v4.1 joint GRCh37 (AF ≥ 0.1, lifted from GRCh38)
Abstract
Abstract VCFcache blueprint derived from gnomAD v4.1 joint frequency data, lifted over from GRCh38 to GRCh37 (hg19). Note This blueprint does not contain annotations. A combined cache+blueprint bundle can be downloaded from the corresponding cache record. Note This is a liftover from GRCh38. For native GRCh38 analysis, use the GRCh38 blueprint instead. Contents This blueprint contains 8M high-quality variant sites lifted over from GRCh38 to GRCh37 using CrossMap and then 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, chrY (GRCh37 coordinates)Source: gnomAD v4.1.0 joint frequency (807,162 samples)Processing: GRCh38→GRCh37 liftover, AF-filtered (≥0.1%), 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 using GRCh37/hg19 coordinates with 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
- 8 January 2026
- Document type
- Dataset