Quantifying prior probabilities for disease-causing variants reveals the top genetic contributors in inborn errors of immunity
Quant Group, Simon Boutry, Ali Saadat, Maarja Soomann, Johannes Trück, D. Sean Froese, Jacques Fellay, Sinisa Savic, Luregn Jan Schlapbach, Dylan Lawless
This paper introduces a statistical framework to quantify prior probabilities of disease-causing variants in inborn errors of immunity, revealing top genetic contributors and validating results in national cohorts.
medRxiv · Mar 25, 2025 · PreprintGenetic & Genomic Medicine