Probabilistic Mechanism Graphs for GWAS Gene Prioritization - v4.0.0 Full-Scale Validated

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Main Author: Ashuraliyev, Abduxoliq
Format: Recurso digital
Published: Zenodo 2025
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author Ashuraliyev, Abduxoliq
author_facet Ashuraliyev, Abduxoliq
contents Complete validated data package for probabilistic mechanism graphs enabling GWAS gene prioritization. ## Version 4.0.0 - Full-Scale Validation Complete ### Comprehensive Validation Summary - **All manuscript claims validated**: 100.0% pass rate - ECE < 0.05: ✅ VALIDATED (actual: 0.038) - Recall@20 >= 76%: ✅ VALIDATED (actual: 76%) - CRISPR AUPRC >= 0.71: ✅ VALIDATED (actual: 0.71) - Replication rate >= 78%: ✅ VALIDATED (actual: 96.8%) ### Data Contents - 51 GWAS loci with full mechanism graphs - 45 Tier 1 gold standard genes (100% anti-leak verified) - 38 drug targets with approved therapeutics - 31 genes with eQTL replication data - 4 GWAS summary statistics datasets ### Key Achievements - Full probabilistic calibration across all modules - Independent eQTL replication from eQTL Catalogue - Comprehensive benchmark against L2G, PoPS, MAGMA - Complete reproducibility documentation Generated: 2025-12-10
format Recurso digital
id zenodo_https___doi_org_10_5281_zenodo_17877740
institution Zenodo
language
publishDate 2025
publisher Zenodo
record_format zenodo
spellingShingle Probabilistic Mechanism Graphs for GWAS Gene Prioritization - v4.0.0 Full-Scale Validated
Ashuraliyev, Abduxoliq
GWAS
gene prioritization
probabilistic graphs
causal inference
fine-mapping
eQTL
colocalization
drug targets
genomics
machine learning
full-scale validation
Complete validated data package for probabilistic mechanism graphs enabling GWAS gene prioritization. ## Version 4.0.0 - Full-Scale Validation Complete ### Comprehensive Validation Summary - **All manuscript claims validated**: 100.0% pass rate - ECE < 0.05: ✅ VALIDATED (actual: 0.038) - Recall@20 >= 76%: ✅ VALIDATED (actual: 76%) - CRISPR AUPRC >= 0.71: ✅ VALIDATED (actual: 0.71) - Replication rate >= 78%: ✅ VALIDATED (actual: 96.8%) ### Data Contents - 51 GWAS loci with full mechanism graphs - 45 Tier 1 gold standard genes (100% anti-leak verified) - 38 drug targets with approved therapeutics - 31 genes with eQTL replication data - 4 GWAS summary statistics datasets ### Key Achievements - Full probabilistic calibration across all modules - Independent eQTL replication from eQTL Catalogue - Comprehensive benchmark against L2G, PoPS, MAGMA - Complete reproducibility documentation Generated: 2025-12-10
title Probabilistic Mechanism Graphs for GWAS Gene Prioritization - v4.0.0 Full-Scale Validated
topic GWAS
gene prioritization
probabilistic graphs
causal inference
fine-mapping
eQTL
colocalization
drug targets
genomics
machine learning
full-scale validation
url https://doi.org/10.5281/zenodo.17877740