Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations
Shilpa N. Kobren, Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia, Xinyun Li, Danielle Barnum, Alexander D. Veit, Rosario I. Corona, George de V. Carvalho Neto, Julian Willett, Michele Berselli, William Ronchetti, Stanley F. Nelson, Julián A. Martínez-Agosto, Richard I. Sherwood, , Esteban C. Dell’Angelica
The paper presents a joint genomic analysis of UDN patients using whole genome sequencing and new statistical methods to prioritize disease genes, revealing new disease associations and releasing a software tool for cohort analysis.
Nature Communications · Aug 6, 2025Peer-reviewedGenetics