Rebecca Torene
3PUBLICATIONS
27CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (3)
Sort by Publication Date:
|Feb 16, 2026
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
|Sep 23, 2024
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.V Kartik Chundru, Zhancheng Zhang, Klaudia Walter
|Jan 23, 2020
Mobile element insertion detection in 89,874 clinical exomes.Rebecca I Torene, Kevin Galens, Shuxi Liu
Pageof 1
Frequent Collaborators
2 joint publications
Kirsty McWalter
2 joint publications
Vincent D Ustach
1 joint publications
V Kartik Chundru
1 joint publications
Klaudia Walter
1 joint publications
Sarah J Lindsay
1 joint publications
Ruth Y Eberhardt
1 joint publications
Eugene J Gardner
1 joint publications
Caroline F Wright
1 joint publications
Aida Bertoli-Avella
1 joint publications
Emmanuelle Szenker-Ravi
