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Dragen v3

Manufactured by Illumina

DRAGEN v3.4.12 is a hardware-accelerated bioinformatics platform developed by Illumina. It provides ultra-rapid processing of sequencing data, including alignment, variant calling, and other genomic analysis tasks. The DRAGEN platform is designed to optimize performance and efficiency for a wide range of genomic applications.

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Lab products found in correlation

2 protocols using dragen v3

1

Variant Extraction from WGS Data

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We utilized 98,622 whole genome sequencing (GS) data released on March 15, 2020. The detailed description of GS is available elsewhere44 . Briefly, the GS data were generated with NovaSeq 6000. DRAGEN v3.4.12 (Illumina) was used for genome alignment and calling, providing 702,668,125 SNVs for 98,622 samples with mean coverage greater or equal to 30x and >90% of bases at 20x coverage. The GS data is available in the All of Us workbench in the Hail matrix. We extracted all variants in PKD1, PKD2, COL4A3, COL4A4, and COL4A5 genes in VCF format using the following hail command in Jupyter Notebook:
We then converted the vcf format data to the bed/bim/fam format using PLINK software42 (link).
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2

All of Us Research Program Sequencing

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Sequencing was performed by the Genome Centers funded by the All of Us Research Program14 (link),15 (link). All centers used the same sequencing protocols that consisted of PCR-free 150 bp, paired-end libraries sequenced on the Illumina NovaSeq 6000 platform and processed using DRAGEN v3.4.12 (Illumina) software. The GRCh38 reference genome was used for alignment16 (link). Phenotypic data, ancestry features, and principal components were annotated using Hail through the All of Us Researcher Workbench17 . Low-quality variants with a call rate of less than 0.95, multiallelic variants, and variants significantly departed from Hardy-Weinberg equilibrium in the control cohort (P ≤ 1.0 × 10−10) were removed. Common variants in autosomal chromosomes with a minor allele frequency of higher than 0.005 were included in the association test. Sex concordance was part of the All of Us upstream genomic data quality control process, and all samples within the released genomic data have passed the sex concordance check. Ancestry annotation and relatedness were inferred by the PC-relate method in Hail. Duplicate samples and one of the related participant pairs were excluded17 .
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