A Bayesian model for quantifying genomic variant evidence sufficiency in Mendelian disease
Quant Group, Ali Saadat, Shweta Pipaliya, Dylan Lawless
The paper introduces a Bayesian model to quantify the sufficiency of genomic variant evidence for Mendelian diseases, enabling consistent interpretation across institutions.
medRxiv · Jan 13, 2026 · PreprintGenetic & Genomic Medicine