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VCFcache cache gnomAD v4.1 joint GRCh37 (AF ≥ 0.1, lifted from GRCh38) annotated with vep 115.2 -e

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Zenodo2026-01-08 更新2026-05-26 收录
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Abstract VCFcache cache derived from gnomAD v4.1 joint frequency data, lifted over from GRCh38 to GRCh37 (hg19). Annotation tool: Ensembl VEP 115.2. Includes Comprehensive annotation (--everything), HGVS nomenclature (--hgvsg). Note This upload includes both the annotation cache and its underlying blueprint. The blueprint can be used to build new caches with different annotation recipes. Note This is a liftover from GRCh38. For native GRCh38 analysis, use the GRCh38 cache instead. Technical detailsCoverage: chr1-22, chrX, chrY (GRCh37 coordinates)Source: gnomAD v4.1.0 joint frequency (807,162 samples)Processing: GRCh38→GRCh37 liftover, AF-filtered (≥10%), normalized,GT/INFO removed, multiallelics split, vep annotatedAnnotation tool: Ensembl VEP 115.2VEP cache: Ensembl 115, GRCh37 VEP Annotations Included (CSQ INFO field)Comprehensive annotation (--everything)HGVS nomenclature (--hgvsg) Setup: vcfcache cache-build --doi <DOI> Usage: vcfcache annotate -a <cache_dir> -i sample.vcf.gz -o sample_vc.bcf --stats-dir output/ Documentation: VCFcache wiki

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2026-01-08
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