Integrating multi-omic data to understand, diagnose, and inform treatment of disease
As of 11 Oct 2023, 6586 genome-wide association studies (GWAS) publications have reported 555,899 genetic variants (predominantly single nucleotide polymorphisms, SNPs), significantly associated (P < 5 × 10-8) with thousands of human diseases and traits. However, the biological mechanisms through which they act are still largely unknown. This program of research will develop and apply statistical methods and multi-omic resources to identify the causal variants; target genes, tissue- and cell-types; and disease mechanisms of GWAS loci to translate GWAS discoveries into biological insight and clinical interventions.