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Long-read transcriptome sequencing reveals allele-specific variants at high resolution
Affiliation:1. Precision Research Center for Refractory Diseases, Institute for Clinical Research, Shanghai Jiao Tong University School of Medicine, Shanghai 201620, China;2. Ministry of Education (MOE) Key Laboratory of Metabolism and Molecular Medicine, Department of Biochemistry and Molecular Biology, School of Basic Medical Sciences, Fudan University, Shanghai, China;1. Temasek Life Sciences Laboratory, National University of Singapore, 1 Research Link, Singapore 117604, Singapore;2. Department of Biological Sciences, National University of Singapore, 14 Science Drive, Singapore 117543, Singapore;1. Guangxi Key Laboratory of Medicinal Resources Protection and Genetic Improvement, Guangxi Medicinal Botanical Garden, Nanning 530023, China;2. Shenzhen Qianhai Shekou Free Trade Zone Hospital, Shenzhen 518067, China;3. Plant Molecular Genetics Laboratory, School of Agricultural Biotechnology, Punjab Agricultural University, Ludhiana, India;4. International Genome Center, Jiangsu University, Zhenjiang 212013, China;5. BGI Institute of Applied Agriculture, BGI-Shenzhen, Shenzhen 518120, China;6. State Key Laboratory for Conservation and Utilization of Bio-Resources in Yunnan, Kunming 650201, China;1. Department of Genetics, Institute of Life Sciences, Hebrew University of Jerusalem, Jerusalem 91904, Israel;1. The University of Queensland Diamantina Institute, The University of Queensland, Dermatology Research Centre, Brisbane, Queensland, Australia;2. The University of Queensland Diamantina Institute, The University of Queensland, Surgical Oncology Group, Queensland, Australia;3. Department of Dermatology, Princess Alexandra Hospital, Brisbane, Queensland, Australia;1. Genome Center and Department of Plant Biology, University of California, Davis, Davis, CA 95616, USA;1. Institute of Evolution & Marine Biodiversity, Ocean University of China, Qingdao 266003, China;2. Key Laboratory of Mariculture (Ocean University of China), Ministry of Education, Qingdao 266003, China;3. Institute of Cell Biology, University of Bern, Baltzerstrasse 4, 3012 Bern, Switzerland;4. Laboratory of Marine Protozoan Biodiversity & Evolution, Ocean College, Shandong University, Weihai 264209, China
Abstract:Disturbance in the regulation of transcript structure plays a crucial role in human disease. In a recent study, Glinos et al. characterized allele-specific transcript alterations in long-read RNA sequencing (RNA-seq) data derived from multiple human tissues and provide a high-resolution view of how disease-associated genetic variants affect transcript structure.
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