Litcius/Paper detail

A cross-disorder dosage sensitivity map of the human genome

Ryan L. Collins, Joseph Glessner, Eleonora Porcu, Maarja Lepamets, Rhonda Brandon, Christopher Lauricella, Lide Han, Theodore Morley, Lisa‐Marie Niestroj, Jacob C. Ulirsch, Selin Everett, Daniel P. Howrigan, Philip M. Boone, Jack Fu, Konrad J. Karczewski, Georgios Kellaris, Chelsea Lowther, Diane Lucente, Kiana Mohajeri, Margit Nõukas, Xander Nuttle, Kaitlin E. Samocha, Mi K. Trinh, Farid Ullah, Urmo Võsa, Andres Metspalu, Reedik Mägi, Mari Nelis, Lili Milani, Tõnu Esko, Matthew E. Hurles, Swaroop Aradhya, Erica E. Davis, Hilary K. Finucane, James F. Gusella, Aura Janze, Nicholas Katsanis, Ludmila Matyakhina, Benjamin M. Neale, D. B. Sanders, Stephanie Warren, Jennelle C. Hodge, Dennis Lal, Douglas M. Ruderfer, Jeanne Meck, Reedik Mägi, Tõnu Esko, Alexandre Reymond, Zoltán Kutalik, Håkon Håkonarson, Shamil Sunyaev, Harrison Brand, Michael E. Talkowski

2022Cell361 citationsDOIOpen Access PDF

Topics & Concepts

BiologyHaploinsufficiencyGeneticsHuman genomeGenomeHuman geneticsGene dosageComputational biologyGeneDiseasePopulationInternal medicinePhenotypeMedicineGene expressionEnvironmental healthGenomic variations and chromosomal abnormalitiesGenomics and Rare DiseasesCancer Genomics and Diagnostics