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LDAK-PBAT: A Pathway-Based Analysis Tool for Decoding the Genetics of Complex Diseases.

2025-01-16 genetic and genomic medicine Title + abstract only
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We introduce LDAK-PBAT, a novel tool for detecting gene pathways associated with complex traits. LDAK-PBAT tests pathways for significance using a heritability-based framework that controls for both the contributions of genes not in the pathway and of inter-genic SNPs. LDAK-PBAT is computationally efficient, requiring only GWAS summary statistics and a reference panel, and when applied to human traits, can test 1000s of pathways within minutes. When assessed using simulated phenotypes, we find ...

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