长读转录组测序以高分辨率揭示等位基因特异性变体。
Long-read transcriptome sequencing reveals allele-specific variants at high resolution.
机构信息
Precision Research Center for Refractory Diseases, Institute for Clinical Research, Shanghai Jiao Tong University School of Medicine, Shanghai 201620, China.
Precision Research Center for Refractory Diseases, Institute for Clinical Research, Shanghai Jiao Tong University School of Medicine, Shanghai 201620, China; 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.
出版信息
Trends Genet. 2023 Jan;39(1):31-33. doi: 10.1016/j.tig.2022.09.001. Epub 2022 Oct 4.
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.
转录结构调控的紊乱在人类疾病中起着至关重要的作用。在最近的一项研究中，Glinos 等人在来自多种人类组织的长读 RNA 测序（RNA-seq）数据中对等位基因特异性转录变化进行了特征描述，并提供了一个高分辨率的视角，展示了疾病相关遗传变异如何影响转录结构。
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