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Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.

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作者单位: Department of Zoology, Collage of Science, King Saud University, Riyadh, Saudi Arabia. [1] Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. [2] Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. [3] Collage of Medicine, Alfaisal University, Riyadh, Saudi Arabia. [4] Pediatric Department, Division of Genetic and Metabolic Medicine, Prince Sultan Medical Military City, Riyadh, Saudi Arabia. [5] Pediatric Department, Neonatal Unit, Armed Forces Hospital, Khamis Mushayt, Saudi Arabia. [6] Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates. [7] Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, OH, USA. [8] Maternal Fetal Medicine, Security Forces Hospital Program, Riyadh, Saudi Arabia. [9] Vitreoretinal Surgery and Ocular Genetics, Global Eye Care/Specialized Medical Center Hospital, Riyadh, Saudi Arabia. [10] Section of Medical Genetics, King Fahad Medical City, Children's Specialist Hospital, Riyadh, Saudi Arabia. [11] Metabolic and Genetic Center, King Salman Bin Abdulaziz Medical City, Almadinah Almunwarah, Saudi Arabia. [12] Newborn Screening, Ministry of Health, Eastern Province, Saudi Arabia. [13] Department of Clinical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. [14] Department of Molecular Biomedicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. [15] King Abdullah University of Science and Technology (KAUST), Core Labs, Thuwal, Saudi Arabia. [16] KAUST Smart-Health Initiative King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia. [17] Engineering (BESE) Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia. [18] Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa. [19] KAUST Smart-Health Initiative King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia. falkuraya@kfshrc.edu.sa. [20]
DOI 10.1186/s13073-023-01270-8
PMID 38098057
发布时间 2024-07-08
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