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Predicting the impact of rare variants on RNA splicing in CAGI6.

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第一作者: Jenny,Lord
第一单位: Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
作者单位: Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK. [1] Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.;Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK. [2] Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.;Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK. [3] Center for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China. [4] University of California, Berkeley, Berkeley, CA, 94720, USA. [5] Department of Biochemistry and Microbiology, Rutgers University, New Brunswick, NJ, 08873, USA. [6] The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT, 06032, USA. [7] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. [8] Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, University of Sydney, Sydney, Australia.;Faculty of Medicine and Health, University of Sydney, Sydney, Australia. [9] Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD, USA. [10] Graduate Program in Biological Sciences and Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD, USA.;Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD, USA. [11] DNAnexus, Mountain View, CA, 94040, USA. [12] Department of Clinical Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark.;Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. [13] Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse, Caen, France.;Inserm U1245, Cancer Brain and Genomics, Normandie Université, UNICAEN, FHU G4 génomique, Rouen, France. [14] Inserm U1245, Cancer Brain and Genomics, Normandie Université, UNIROUEN, FHU G4 génomique, Rouen, France. [15] Inserm U1245, Cancer Brain and Genomics, Normandie Université, UNIROUEN, FHU G4 génomique, Rouen, France.;Department of Genetics, Univ Rouen Normandie, INSERM U1245, FHU-G4 Génomique and CHU Rouen, 76000, Rouen, France. [16] Khoury College of Computer Sciences, Northeastern University, Boston, MA, 02115, USA. [17] Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK. d.baralle@soton.ac.uk.;Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK. d.baralle@soton.ac.uk. [18]
DOI 10.1007/s00439-023-02624-3
PMID 38170232
发布时间 2025-04-21
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