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The Human Genotype-Phenotype Map

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Health Data Research Gateway2026-03-26 更新2026-07-16 收录
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The Human Genotype-Phenotype Map (GPMap) is an integrated discovery engine designed to bridge the gap between GWAS discovery and functional follow-up. While standard browsers identify genes in proximity to lead SNPs, the GPMap uses rigorous fine-mapping and colocalization to identify causal links between thousands of complex traits and molecular layers (eQTL, pQTL, sQTL, and methQTL). Core Capabilities Causal Locus Resolution: Transition from nearest gene heuristics to empirical evidence. By scanning Colocalization Groups (CGs), you can identify the specific phenotypes and molecular mechanisms sharing a genetic architecture at a single locus. Systemic Pleiotropy & Comorbidity: Instantly visualize pleiotropic neighbors. The GPMap allows you to deconvolve whether a variant affects multiple traits independently (horizontal pleiotropy) or acts through a molecular mediator like a protein (vertical pleiotropy). Precision MR Instruments: Streamline Mendelian Randomization by selecting instruments backed by high colocalization posterior probabilities (H4>0.8). This minimizes LD-contamination and ensures your IVs are functionally relevant. User-Led Extensibility: Beyond our library of 4,500+ traits, you can upload your own GWAS summary statistics. The platform will automatically run fine-mapping and colocalization against our entire multi-omic database to identify supported mechanisms for your novel hits.

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2026-03-18
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