Enriching for Answers in Rare Diseases
Yilei Fu, Adam C. English, Luis F. Paulin, Shalini N. Jhangiani, George Weissenberger, Vanessa Vee, Yi Han, Heer Hemant Mehta, Donna Marie Muzny, Richard A. Gibbs, Jennifer E. Posey, Daniel G. Calame, Fritz Joachim Sedlazeck
TBAS enables cost-effective long-read sequencing of rare-disease trios with high variant detection accuracy and a 77% potential solve rate.
medRxiv · Oct 21, 2025 · PreprintGenetic & Genomic Medicine