This dataset contains alignment files and short nucleotide, copy number, repeat expansion (STR) and structural variant call files from the 1000 Genomes Project Phase 3 dataset (n=3202) using Illumina DRAGEN v3.5.7b and v3.7.6 software. The v3.7.6 dataset also includes results from joint small variant, de novo structural variant, de novo copy number variant and repeat expansion calls on 602 trio families comprised of members from the 1000 Genomes Project Phase 3 dataset, as well as DRAGEN gVCF Genotyper (v3.8.3) analysis on the entire dataset (n=3202). Improvements and new features in the v3.7.6 individual samples analyses include CYP2D6 variant calling and joint detection (see ‘DRAGEN 3.7 User Guide’ for details on these features) and use of graph-based hg19 and hg38 reference hash tables (see ‘DRAGEN Wins at PrecisionFDA Truth Challenge V2 Showcase Accuracy Gains from Alt-aware Mapping and Graph Reference Genomes’ for details).
Files may be updated subsequent to changes to the 1000 Genomes Project data set or select new DRAGEN features or offerings.
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1000 Genomes Phase 3 Reanalysis with DRAGEN 3.5 and 3.7 was accessed on
DATE from https://registry.opendata.aws/ilmn-dragen-1kgp.
aws s3 ls --no-sign-request s3://1000genomes-dragen/
aws s3 ls --no-sign-request s3://1000genomes-dragen-3.7.6/