Fig. 1: Analysis workflow. | Translational Psychiatry

Fig. 1: Analysis workflow.

From: Convergence and divergence of genes informed by common and rare variants of autism spectrum disorders in tissue-specific pathways and gene networks

Fig. 1: Analysis workflow.

The first step of the overall analysis pipeline for Mergeomics is marker dependent filtering (MDF) to correct for linkage disequilibrium (LD) among GWAS SNPs. Summary statistics from the genome-wide association study are taken with tissue-specific eQTL and sQTL data to map genetic markers to corresponding genes in each tissue. ASD-enriched modules, or lists of genes that are found to have an association with ASD, are identified in marker set enrichment analysis (MSEA) by organizing the marker-mapped genes from MDF into coexpression gene sets and assessing their enrichment against a null distribution. By assessing their disease enrichment in a gene regulatory network, important regulatory genes are identified in key driver analysis (KDA). This figure was created with BioRender.com.

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