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. 2022 Oct 11;13:5995. doi: 10.1038/s41467-022-33510-7

Fig. 1. Overall study schematic.

Fig. 1

The analyses were conducted using the multi-ancestral TOPMed freeze8 data to associate whole genome sequence variation with lipid phenotypes (i.e., LDL-C, HDL-C, TC, and TG). A total of 66,329 samples with lipids quantified data from five ancestry groups were analyzed. Single variant GWAS were carried out using SAIGE on the Encore platform using SNPs with MAC >20. Both trans-ancestry and ancestry-specific GWAS were conducted. Genome-wide rare variant (MAF <1%) gene-centric and region-based aggregate tests were grouped and analyzed using STAARpipeline. Finally, single variant and rare variant associations at Mendelian dyslipidemia genes were investigated in further detail. TOPMed Trans-Omics for Precision Medicine, HDL-C high-density lipoprotein cholesterol, LDL-C low-density lipoprotein cholesterol, TC total cholesterol, TG triglycerides, GWAS genome wide association study, SAIGE Scalable and Accurate Implementation of GEneralized mixed model, MAC minor allele count, MAF minor allele frequency, SNPs single nucleotide polymorphisms.