BioinformaticsbioRxivPreprint
Monte Carlo Simulation Analysis of Variant Burden Prompts Potential Oligogenic Interactions
Villem Pata, Markus Marandi, Jaan Marten Huik…·Sander Pajusalu
The paper uses Monte Carlo simulations on summary-level allele counts to detect pathway-level variant burden enrichment in neuromuscular disease, identifying potential oligogenic interactions.
DOI 10.64898/2025.12.27.696666