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VCFcache blueprint gnomAD v4.1 joint GRCh37 (AF ≥ 0.001, lifted from GRCh38)

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Zenodo2026-01-08 更新2026-05-26 收录
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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 98.9M high-quality variant sites lifted over from GRCh38 to GRCh37 using CrossMap and then 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, 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 <DOI> -o <output_dir> Usage: vcfcache cache-build --db <blueprint_dir> -a annotation.yaml -n <name> Documentation: VCFcache wiki

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Zenodo
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2026-01-08
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