对计算方法和数据库来源的审查,以预测编码的效果 移 小插入和删除变化
Fang Ge1,2, Muhammad Arif3, Zihao Yan4
1State Key Laboratory of Organic Electronics and lnformation Displays & lnstitute of Advanced Materials (IAM), Nanjing University of Posts & Telecommunications, 9 Wenyuan Road, Nanjing 210023, China.
ACS omega
|January 22, 2024
概括
本综述探讨了用于预测基因框架转移小插入和删除 (indels) 对蛋白质功能的影响的计算方法. 它强调了人工智能和深度学习的挑战和潜力,以改善疾病预测.
科学领域:
- 遗传学 遗传学 是一个
- 生物信息学是一种生物信息学.
- 计算生物学 计算生物学
背景情况:
- 遗传变异,包括小插入和删除 (indels),显著影响DNA序列和蛋白质功能.
- 框架转移变异,特别是编码小内置,破坏蛋白质结构,并与疾病病原发生有关.
- 高通量测序使得人们对基因变异在疾病中的作用有了更深入的了解.
研究的目的:
- 审查计算方法来预测编码移的后果.
- 分析用于变异预测的计算工具和数据库的有效性,可靠性和利用率.
- 为了比较使用功能增益/功能丧失病原变异数据的预测方法.
主要方法:
- 对编码框架转移预测计算方法的系统审查.
- 预测效率,可靠性和数据库利用率的分析.
- 对病原变异数据的预测方法进行比较分析.
主要成果:
- 识别了当前的计算方法,数据库,挑战和未来的方向,用于预测位移动的影响.
- 评估了现有的计算工具的预测效率和可靠性.
- 对功能增益和功能丧失变化的比较预测方法.
结论:
- 计算方法对于理解移对蛋白质功能和疾病的影响至关重要.
- 人工智能和深度学习对提高预测准确性和跨物种概括性显示出希望.
- 跨学科的研究对于开发与编码框架转移相关的疾病的有效策略至关重要.
相关概念视频
Exon Recombination
3.6K
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes.
Exon shuffling follows “splice frame rules.” Each exon...
Exon shuffling follows “splice frame rules.” Each exon...
3.6K
Mutations
82.4K
Overview
82.4K
Nonsense-mediated mRNA Decay
10.6K
The Upf proteins that carry out nonsense-mediated decay (NMD) are found in all eukaryotic organisms, including humans. Each protein has an individual role, but they need to work in collaboration. Upf1 is an ATP-dependent RNA helicase that unwinds the RNA helix. Because Upf1 can unwind any RNA, Upf2 and Upf3 are required to help Upf1 discriminate between nonsense and normal mRNAs.
Usually, Upf3 binds to an Exon Junction Complex (EJC) at mRNA splice sites. If a ribosome fully translates the mRNA,...
Usually, Upf3 binds to an Exon Junction Complex (EJC) at mRNA splice sites. If a ribosome fully translates the mRNA,...
10.6K
Gene Evolution - Fast or Slow?
7.1K
The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
In contrast, regions which code...
In contrast, regions which code...
7.1K
Comparing Copy Number Variations and SNPs
17.7K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.7K
Genome Copying Errors
4.2K
DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their survival. Therefore, the copying errors are checked and repaired at three levels.
4.2K


