Recently Evolved Enhancers Emerge with High Interindividual Variability and Less Frequently Associate with Disease

Autor: Castelijns, Bas, Baak, Mirna L., Geeven, Geert, Vermunt, Marit W., Wiggers, Caroline R.M., Timpanaro, Ilia S., Kondova, Ivanela, de Laat, Wouter, Creyghton, Menno P.

Publikováno v: In Cell Reports 23 June 2020 31(12)

Deep learning modeling of rare noncoding genetic variants in human motor neurons defines CCDC146 as a therapeutic target for ALS.

Autor: Zhang S; Department of Epidemiology, University of Florida, Gainesville, FL, USA.; J. Crayton Pruitt Family Department of Biomedical Engineering, Genetics Institute, McKnight Brain Institute, University of Florida, Gainesville, FL, USA.; Department of Genetics, Center for Genomics and Personalized Medicine, Stanford University School of Medicine, Stanford, CA, USA.; These authors contributed equally: Sai Zhang, Tobias Moll, and Jasper Rubin-Sigler., Moll T; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.; These authors contributed equally: Sai Zhang, Tobias Moll, and Jasper Rubin-Sigler., Rubin-Sigler J; Department of Stem Cell Biology and Regenerative Medicine, Eli and Edythe Broad Center for Regenerative Medicine and Stem Cell Research, University of Southern California, Los Angeles, CA, USA.; These authors contributed equally: Sai Zhang, Tobias Moll, and Jasper Rubin-Sigler., Tu S; Department of Stem Cell Biology and Regenerative Medicine, Eli and Edythe Broad Center for Regenerative Medicine and Stem Cell Research, University of Southern California, Los Angeles, CA, USA., Li S; School of Engineering, Research Center for Industries of the Future, Westlake University, Hangzhou, Zhejiang, China., Yuan E; Institute for Interdisciplinary Information Sciences, Tsinghua University, Beijing, China., Liu M; Department of Epidemiology, University of Florida, Gainesville, FL, USA., Butt A; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Harvey C; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Gornall S; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Alhalthli E; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Shaw A; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Souza CDS; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Ferraiuolo L; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Hornstein E; Department of Molecular Genetics and Department of Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel., Shelkovnikova T; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., van Dijk CH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands., Timpanaro IS; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands., Kenna KP; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands., Zeng J; School of Engineering, Research Center for Industries of the Future, Westlake University, Hangzhou, Zhejiang, China., Tsao PS; VA Palo Alto Healthcare System, Palo Alto, CA, USA.; Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA., Shaw PJ; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Ichida JK; Department of Stem Cell Biology and Regenerative Medicine, Eli and Edythe Broad Center for Regenerative Medicine and Stem Cell Research, University of Southern California, Los Angeles, CA, USA., Cooper-Knock J; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Snyder MP; Department of Genetics, Center for Genomics and Personalized Medicine, Stanford University School of Medicine, Stanford, CA, USA.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Apr 01. Date of Electronic Publication: 2024 Apr 01.