Analysis of spliceosome-related coding and noncoding genes and pseudogenes reveals novel candidates
Olfa Messaoud, Stephanie P. DiTroia, Rahaf Tarawneh, Daniel Marten, Emily O’Heir, Melanie O’Leary, Lynn S. Pais, Vijay Ganesh, Moriel Singer‐Berk, Monica Wojcik, Kaitlin E. Samocha, Heidi L. Rehm, Christina Anne Austin-Tse, Anne O’Donnell‐Luria
The paper identifies novel spliceosome-related genes and pseudogenes associated with rare diseases using variant analysis and prioritization methods.
medRxiv · Aug 10, 2026 · PreprintGenetic & Genomic Medicine