Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene.

Autor: Cooper-Knock J; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK. Electronic address: j.cooper-knock@sheffield.ac.uk., Zhang S; Stanford Center for Genomics and Personalized Medicine, Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA., Kenna KP; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Moll T; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Franklin JP; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Allen S; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Nezhad HG; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Iacoangeli A; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Yacovzada NY; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel., Eitan C; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel., Hornstein E; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel., Elhaik E; Department of Biology, Lund University, Lund, Sweden., Celadova P; Sheffield Institute for Nucleic Acids, University of Sheffield, Sheffield, UK., Bose D; Sheffield Institute for Nucleic Acids, University of Sheffield, Sheffield, UK., Farhan S; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA., Fishilevich S; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel., Lancet D; Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel., Morrison KE; Faculty of Medicine, University of Southampton, Southampton, UK., Shaw CE; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Al-Chalabi A; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Veldink JH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Kirby J; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Snyder MP; Stanford Center for Genomics and Personalized Medicine, Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA., Shaw PJ; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK. Electronic address: pamela.shaw@sheffield.ac.uk.

Publikováno v: Cell reports [Cell Rep] 2020 Dec 01; Vol. 33 (9), pp. 108456.