UniSplicer:一种深度学习框架,用于在多种类型中准确地预测拼接位置和检测拼接改变突变
Conghao Hong1, Wenzhen Cheng1, Zhengyi Li1
1National Engineering Research Center of Tree Breeding and Ecological Restoration, State Key Laboratory of Efficient Production of Forest Resources, College of Biological Sciences and Technology, Beijing Forestry University, Beijing, 100083, China.
Plant communications
|January 1, 2026
概括
一个新的深度学习框架,UniSplicer,使用有限的数据准确地预测不同物种的RNA拼接地点. 这个工具有助于理解基因结构和突变效应,即使在非模型生物中也是如此.
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:
- 准确的拼接部位识别对于理解基因结构和功能至关重要.
- 现有的基因注释方法需要大量的资源和高质量的基因组组件,限制了它们在非模型物种中的应用.
- 在许多生物体中,有限的转录组数据对拼接地点预测构成了挑战.
研究的目的:
- 开发基于深度学习的框架,用于在各种物种中准确地预测内核结合地点,即使使用有限的转录基因数据.
- 创建一种能够克服与传统基因注释方法相关的资源限制的工具.
- 提供一种可靠的方法来分析大型基因组数据集中的拼接变化.
主要方法:
- 开发一个基于深度学习的模型培训框架,名为UniSplicer.
- 培训和验证UniSplicer模型在各种物种 (植物,真菌,元动物) 的转录基因数据上.
- 对UniSplicer性能与现有的拼接地点预测模型进行比较分析.
主要成果:
- 基于UniSplicer的模型在各种物种中显示出比现有方法更高的预测准确度.
- 来自UniSplicer模型的预测得分可以作为突变对拼接的影响的可靠指标.
- 在UniSplicer Arabidopsis thaliana模型中,鉴定出由于序列变异导致拼接异常的基因,这表明了潜在的环境选择.
结论:
- UniSplicer 提供了一种高度准确和资源高效的解决方案,用于在广泛的物种中预测内子拼接地点.
- 该框架有助于分析大型基因组数据集中的拼接变化和突变效应,特别是对于非模型生物.
- UniSplicer提供了关于序列变化,拼接和潜在的环境适应之间的关系的宝贵见解.
相关概念视频
RNA Splicing
60.2K
Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
60.2K
Alternative RNA Splicing
24.6K
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
24.6K
Alternative RNA Splicing
4.7K
4.7K
Pre-mRNA Processing: RNA Splicing
6.5K
6.5K
Single Nucleotide Polymorphisms-SNPs
17.8K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
17.8K
Point and Frameshift Mutations
758
Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
758


