Integrative analysis of rare variants and pathway information shows convergent results between immune pathways, drug targets and epilepsy genes
Hoang T. Nguyen, Amanda L. Dobbyn, Alexander W. Charney, Julien Bryois, April Kim, Whitney C. McFadden, Nathan Skene, Laura M. Huckins, Weiqing Wang, Douglas M. Ruderfer, Xinyi Xu, Menachem Fromer, Shaun Purcell, Kasper Lage, Matthijs Verhage, , Eli A. Stahl
The paper introduces a Bayesian framework to prioritize risk genes for complex diseases by integrating gene-set information with variant counts, identifying novel epilepsy risk genes and linking them to immune pathways and drug targets.
bioRxiv · Nov 24, 2018 · PreprintGenomics