A cross-disorder dosage sensitivity map of the human genome
Ryan L. Collins, Joseph Glessner, Eleonora Porcu, Maarja Lepamets, Rhonda C. Brandon, Christopher Lauricella, Lide Han, Theodore J. Morley, Lisa‐Marie Niestroj, Jacob C. Ulirsch, Selin Everett, Daniel P. Howrigan, Philip M. Boone, Jack M. Fu, Konrad J. Karczewski, , Michael E. Talkowski
This study identifies 114 genome-wide significant rare CNV-disease associations across 30 neurological disorders, revealing 38 novel triplosensitive genes and developing a model to predict dosage sensitivity.
Cell · Aug 1, 2022Peer-reviewedGenetic & Genomic Medicine