Journal Article
Multiscore, a gene ranker powered by artificial intelligence and real-world clinical data, shows high sensitivity for the molecular diagnosis of Mendelian disorders in nearly 10,000 exomes and genomes
Vincent D. Ustach; Maria J. Guillen Sacoto; Stephen McGee; Vladimir G. Gainullin; Kevin Arvai; Amber Begtrup; Flavia M. Facio; Matthew Greenberg; Hákon Guðbjartsson; Kirsty McWalter; Francisca Millán; Kristin Monaghan; Kyle Retterer; Gabriele Richard; Nadav Topaz; Rebecca Torene; Britt Johnson; Timothy Laurent
Human Genetics · Vol. 145, Issue 1 · 2026