GENCODE:通过捕获长读RNA测序来大规模扩展lncRNA目录
Gazaldeep Kaur1, Tamara Perteghella1,2, Sílvia Carbonell-Sala1
1Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Dr. Aiguader 88, Barcelona 08003, Catalonia, Spain.
bioRxiv : the preprint server for biology
|November 18, 2024
概括
GENCODE联盟在人类和小鼠基因组中显著扩展了长非编码RNA (lncRNA) 标注. 这一全面的更新增强了对基因功能和疾病关联的理解.
科学领域:
- 基因组学就是基因组学.
- 分子生物学分子生物学
- 生物信息学是一种生物信息学.
背景情况:
- 准确的基因注释对于理解基因组功能至关重要.
- 现有的长长的非编码RNA (lncRNA) 目录是不完整的和碎片化的.
- GENCODE联盟提供了基本的人类和小鼠基因组注释.
研究的目的:
- 进行迄今为止最全面的长非编码RNAs (lncRNAs) 的注释.
- 提高人类和小鼠基因组的功能解释性.
- 为 lncRNAs,特别是与疾病相关的 lncRNAs 建立人与老鼠的 ортолог.
主要方法:
- 手动注释全长长读数序列数据的手动注释.
- 从人类和小鼠中匹配的胚胎和成年组织的分析.
- 针对性测序正统基因组区域的目标测序.
主要成果:
- 在GENCODE目录中添加了17931个新的人类基因和22784个新的小鼠基因.
- 代表了人类的2倍增加和小鼠lncRNA转录的6倍增加.
- 已建立的人类-小鼠对疾病相关的lncRNAs的 ортолог,比以前的速度增加了三倍.
- 新的lncRNA注释表现出进化约束,并与表型相关的变异联系在一起.
- 解释了数以百万计以前未被分配的"孤儿"omics测量.
结论:
- 扩展的GENCODE lncRNA注释是破译人类和小鼠基因组的关键进步.
- 这项工作显著提高了基因组数据的功能解释性.
- 改进的正统学家任务促进了对 lncRNA 功能和疾病的跨物种研究.
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