A consensus variant-to-function score to functionally prioritize variants for disease
Tabassum Fabiha, Ivy Evergreen, Soumya Kundu, Anusri Pampari, Sergey Abramov, Alexandr Boytsov, Kari Strouse, Katherine Dura, Weixiang Fang, Gaspard Kerner, John Butts, Thahmina A. Ali, Andreas R. Gschwind, Kristy S. Mualim, Jill E. Moore, , Kushal K. Dey
This paper introduces a consensus variant-to-function score to prioritize disease-causing variants, showing improved performance in heritability enrichment and fine-mapping.
bioRxiv · Nov 7, 2024 · PreprintGenetics