Article

Path-Probability Models Outperform Point-Estimate Scores for Noncoding GWAS Gene Prioritization

2025-12-22

Abstract excerpt

<title>Abstract</title> <p>Genome-wide association studies identify thousands of disease-associated loci, but translating these to causal genes remains challenging because existing methods collapse complex regulatory pathways into single point-estimate scores. Here we introduce \textbf{mechanism graphs}---a new probabilistic inference object that explicitly represents causal chains from variants through regulator...

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Literature Corpus work: 5de1a3e6-5b9e-58d7-bdcb-b1d698fbde60
DOI: 10.21203/rs.3.rs-8270134/v1

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