Extended Data Fig. 2: Manhattan plots for gene-centric unconditional meta-analysis of lipid traits LDL-C, HDL-C, TG and TC using TOPMed WGS data (n = 30,138). | Nature Genetics

Extended Data Fig. 2: Manhattan plots for gene-centric unconditional meta-analysis of lipid traits LDL-C, HDL-C, TG and TC using TOPMed WGS data (n = 30,138).

From: Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies

Extended Data Fig. 2: Manhattan plots for gene-centric unconditional meta-analysis of lipid traits LDL-C, HDL-C, TG and TC using TOPMed WGS data (n = 30,138).

The horizontal line indicates the genome-wide MetaSTAAR-O P value threshold of 5.00 × 10−7. The significant threshold is defined by multiple comparisons using the Bonferroni correction (0.05/(20,000×5) = 5.00 × 10−7). MetaSTAAR-O is a two-sided test. Different symbols represent the MetaSTAAR-O P values of different functional categories of individual genes (putative loss-of-function, missense, synonymous, promoter and enhancer). The promoter and enhancer of a gene are the promoter and the GeneHancer region that overlap with CAGE sites for a given gene, respectively (Methods). Four lipid traits were analyzed using MetaSTAAR-O: LDL-C, low-density lipoprotein cholesterol; HDL-C, high-density lipoprotein cholesterol; TG, triglycerides; TC, total cholesterol.

Back to article page