Oleksandr Frei, Guy Hindley, Alexey A Shadrin, Dennis van der Meer, Bayram C Akdeniz, Espen Hagen, Weiqiu Cheng, Kevin S O'Connell, Shahram Bahrami, Nadine Parker, Olav B Smeland, Dominic Holland, Christiaan de Leeuw, Danielle Posthuma, Ole A Andreassen, Anders M Dale
While genome-wide association studies are increasingly successful in discovering genomic loci associated with complex human traits and disorders, the biological interpretation of these findings remains challenging. Here we developed the GSA-MiXeR analytical tool for gene set analysis (GSA), which fits a model for the heritability of individual genes, accounting for linkage disequilibrium across variants and allowing the quantification of partitioned heritability and fold enrichment for small gene sets. We validated the method using extensive simulations and sensitivity analyses...
June 3, 2024: Nature Genetics