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Pipeline diagram. A Inputs to GWAS, TWAS, and RVA. B GWAS output is fed into PASCAL, which calculates gene-level p-values. TWAS outputs gene-level p-values. STAAR splits variants into ten functional categories and outputs 10 p-values per gene. C Correlated meta-analysis (CMA) is run 10 times. Each run uses outputs from PASCAL and TWAS together with one variant category of STAAR, outputting 10 p-values. D For each gene, the minimum p-value from 10 CMA runs is fed into module enrichment analysis, which is also performed by PASCAL. PASCAL outputs enriched modules and their p-values. Gene ontology over-representation analysis identifies biological processes with significant over-representation among genes in each module

Journal: Human Genetics

Article Title: A methodology for gene level omics-WAS integration identifies genes influencing traits associated with cardiovascular risks: the Long Life Family Study

doi: 10.1007/s00439-024-02701-1

Figure Lengend Snippet: Pipeline diagram. A Inputs to GWAS, TWAS, and RVA. B GWAS output is fed into PASCAL, which calculates gene-level p-values. TWAS outputs gene-level p-values. STAAR splits variants into ten functional categories and outputs 10 p-values per gene. C Correlated meta-analysis (CMA) is run 10 times. Each run uses outputs from PASCAL and TWAS together with one variant category of STAAR, outputting 10 p-values. D For each gene, the minimum p-value from 10 CMA runs is fed into module enrichment analysis, which is also performed by PASCAL. PASCAL outputs enriched modules and their p-values. Gene ontology over-representation analysis identifies biological processes with significant over-representation among genes in each module

Article Snippet: GWAS SNP-chip data for the LLFS participants were produced using Illumina 2.5 million HumanOmni array.

Techniques: Functional Assay, Variant Assay

Genes that are genome-wide significant after CMA and are FHS-replicated

Journal: Human Genetics

Article Title: A methodology for gene level omics-WAS integration identifies genes influencing traits associated with cardiovascular risks: the Long Life Family Study

doi: 10.1007/s00439-024-02701-1

Figure Lengend Snippet: Genes that are genome-wide significant after CMA and are FHS-replicated

Article Snippet: GWAS SNP-chip data for the LLFS participants were produced using Illumina 2.5 million HumanOmni array.

Techniques: Genome Wide