Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly.

Autor: Mostovoy Y; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02115, USA., Boone PM; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA., Huang Y; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Garimella KV; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Tan KT; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, USA; Cancer Program, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA., Russell BE; Division of Genetics, Department of Pediatrics, University of California, Los Angeles, Los Angeles, CA 90095, USA., Salani M; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., de Esch CEF; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02115, USA., Lemanski J; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., Curall B; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02115, USA., Hauenstein J; Bionano Genomics, Inc, San Diego, CA 92121, USA., Lucente D; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., Bowers T; Genomics Platform, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., DeSmet T; Genomics Platform, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Gabriel S; Genomics Platform, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Morton CC; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Departments of Obstetrics and Gynecology and of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA; Manchester Center for Audiology and Deafness, School of Health Sciences, University of Manchester, Manchester M13 9PL, UK., Meyerson M; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, USA; Cancer Program, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA., Hastie AR; Bionano Genomics, Inc, San Diego, CA 92121, USA., Gusella J; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02115, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA., Quintero-Rivera F; Departments of Pathology, Laboratory Medicine, and Pediatrics, Division of Genetic and Genomic Medicine, University of California, Irvine, Irvine, CA 92697, USA., Brand H; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02115, USA; Pediatric Surgery Research Laboratory, Department of Pediatrics, Boston, MA 02114, USA., Talkowski ME; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02115, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. Electronic address: mtalkowski@mgh.harvard.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Dec 05; Vol. 111 (12), pp. 2693-2706. Date of Electronic Publication: 2024 Nov 08.

TTV and CMV viral load dynamics: Which emerges first during immunosuppression?

Autor: Roberto P; Laboratory of Microbiology and Virology, Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy.; PhD National Programme in One Health Approaches to Infectious Diseases and Life Science Research, Department of Public Health, Experimental and Forensic Medicine, University of Pavia, Pavia, Italy.; University Hospital 'Policlinico Umberto I', Rome, Italy., Cinti L; Laboratory of Microbiology and Virology, Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy.; University Hospital 'Policlinico Umberto I', Rome, Italy.; PhD National Programme in Innovazione nella diagnosi, prevenzione e terapia delle infezioni a rischio epidemico-pandemico, Dipartimento di Biotecnologie Mediche, University of Siena, Siena, Italy., Lucente D; Department of Mathematics & Physics, University of Campania 'Luigi Vanvitelli', Caserta, Italy., Russo G; University Hospital 'Policlinico Umberto I', Rome, Italy.; Department of Public Health and Infectious Diseases, Sapienza University of Rome, Rome, Italy., Lai Q; University Hospital 'Policlinico Umberto I', Rome, Italy.; Department of Chirurgia Generale e Specialistica, Sapienza Università di Roma, Roma, Italy., Micozzi A; University Hospital 'Policlinico Umberto I', Rome, Italy.; Department of Translational and Precision Medicine, Sapienza University of Rome, Rome, Italy., Gentile G; University Hospital 'Policlinico Umberto I', Rome, Italy.; Department of Translational and Precision Medicine, Sapienza University of Rome, Rome, Italy., Turriziani O; Laboratory of Microbiology and Virology, Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy.; University Hospital 'Policlinico Umberto I', Rome, Italy., Pierangeli A; Laboratory of Microbiology and Virology, Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy., Antonelli G; Laboratory of Microbiology and Virology, Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy.; University Hospital 'Policlinico Umberto I', Rome, Italy.

Publikováno v: Journal of medical virology [J Med Virol] 2024 Jul; Vol. 96 (7), pp. e29814.

Genetic modifiers of somatic expansion and clinical phenotypes in Huntington's disease reveal shared and tissue-specific effects.

Autor: Lee JM, McLean ZL, Correia K, Shin JW, Lee S, Jang JH, Lee Y, Kim KH, Choi DE, Long JD, Lucente D, Seong IS, Pinto RM, Giordano JV, Mysore JS, Siciliano J, Elezi E, Ruliera J, Gillis T, Wheeler VC, MacDonald ME, Gusella JF, Gatseva A, Ciosi M, Lomeikaite V, Loay H, Monckton DG, Wills C, Massey TH, Jones L, Holmans P, Kwak S, Sampaio C, Orth M, Bernhard Landwehrmeyer G, Paulsen JS, Ray Dorsey E, Myers RH

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2024 Jun 18. Date of Electronic Publication: 2024 Jun 18.

Splice modulators target PMS1 to reduce somatic expansion of the Huntington's disease-associated CAG repeat.

Autor: McLean ZL; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA, 02115, USA.; Medical and Population Genetics Program, the Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA., Gao D; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA, 02115, USA.; Medical and Population Genetics Program, the Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA., Correia K; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA., Roy JCL; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA, 02115, USA., Shibata S; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA, 02115, USA.; Medical and Population Genetics Program, the Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA., Farnum IN; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA., Valdepenas-Mellor Z; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA., Kovalenko M; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA., Rapuru M; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA., Morini E; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA, 02115, USA., Ruliera J; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA., Gillis T; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA., Lucente D; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA., Kleinstiver BP; Center for Genomic Medicine and Department of Pathology, Massachusetts General Hospital, Boston, MA, 02114, USA.; Department of Pathology, Harvard Medical School, Boston, MA, 02115, USA., Lee JM; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA, 02115, USA.; Medical and Population Genetics Program, the Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA., MacDonald ME; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA, 02115, USA.; Medical and Population Genetics Program, the Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA., Wheeler VC; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA, 02115, USA.; Medical and Population Genetics Program, the Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA., Mouro Pinto R; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA, 02115, USA.; Medical and Population Genetics Program, the Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA., Gusella JF; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA. jgusella@mgh.harvard.edu.; Medical and Population Genetics Program, the Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA. jgusella@mgh.harvard.edu.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, 02115, USA. jgusella@mgh.harvard.edu.

Publikováno v: Nature communications [Nat Commun] 2024 Apr 12; Vol. 15 (1), pp. 3182. Date of Electronic Publication: 2024 Apr 12.

Modification of Huntington's disease by short tandem repeats.

Autor: Hong EP; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.; Medical and Population Genetics Program, The Broad Institute of M.I.T. and Harvard, Cambridge, MA 02142, USA., Ramos EM; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA., Aziz NA; Population & Clinical Neuroepidemiology, German Center for Neurodegenerative Diseases, 53127 Bonn, Germany.; Department of Neurology, Faculty of Medicine, University of Bonn, Bonn D-53113, Germany., Massey TH; Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff CF24 4HQ, UK., McAllister B; Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff CF24 4HQ, UK., Lobanov S; Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff CF24 4HQ, UK., Jones L; Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff CF24 4HQ, UK., Holmans P; Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff CF24 4HQ, UK., Kwak S; Molecular System Biology, CHDI Foundation, Princeton, NJ 08540, USA., Orth M; University Hospital of Old Age Psychiatry and Psychotherapy, Bern University, CH-3000 Bern 60, Switzerland., Ciosi M; School of Molecular Biosciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, UK., Lomeikaite V; School of Molecular Biosciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, UK., Monckton DG; School of Molecular Biosciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, UK., Long JD; Department of Psychiatry, Carver College of Medicine and Department of Biostatistics, College of Public Health, University of Iowa, Iowa City, IA 52242, USA., Lucente D; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., Wheeler VC; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA., Gillis T; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., MacDonald ME; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.; Medical and Population Genetics Program, The Broad Institute of M.I.T. and Harvard, Cambridge, MA 02142, USA., Sequeiros J; UnIGENe, IBMC-Institute for Molecular and Cell Biology, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto 420-135, Portugal.; ICBAS School of Medicine and Biomedical Sciences, University of Porto, Porto 420-135, Portugal., Gusella JF; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Medical and Population Genetics Program, The Broad Institute of M.I.T. and Harvard, Cambridge, MA 02142, USA.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA 02115, USA., Lee JM; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.; Medical and Population Genetics Program, The Broad Institute of M.I.T. and Harvard, Cambridge, MA 02142, USA.

Publikováno v: Brain communications [Brain Commun] 2024 Jan 23; Vol. 6 (2), pp. fcae016. Date of Electronic Publication: 2024 Jan 23 (Print Publication: 2024).