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人工智能和数据库用于罕见疾病的NGS诊断
Yee Wen Choon1,2, Yee Fan Choon3, Nurul Athirah Nasarudin4
1Institute for Artificial Intelligence and Big Data, Universiti Malaysia Kelantan, Kota Bharu, Kelantan, Malaysia.
Frontiers in genetics
|February 19, 2024
概括
人工智能 (AI) 通过改进下一代测序 (NGS) 数据分析来增强罕见疾病 (RD) 诊断. 这篇评论探讨了人工智能.
科学领域:
- 基因组学就是基因组学.
- 生物信息学是一种生物信息学.
- 人工智能的人工智能
背景情况:
- 罕见疾病 (RDs) 在全球影响3亿人,带来复杂的遗传挑战.
- 下一代测序 (NGS) 已经推进了R&D遗传异质性研究和诊断.
- 生物信息学工具对于在RDS中分析大型NGS数据集至关重要.
研究的目的:
- 审查人工智能 (AI) 在下一代测序 (NGS) 罕见疾病 (RD) 研究中的当前应用.
- 讨论人工智能在基于NGS的遗传学中的未来方向和挑战.
- 为了比较各种罕见疾病数据库.
主要方法:
- 审查当前关于人工智能应用在NGS的R&Ds. 的文献.
- 分析AI在变种调用,预测和电子健康记录 (EHR) 系统中的作用.
- 罕见疾病数据库的比较评估.
主要成果:
- 人工智能,特别是深度学习,在提高NGS数据的变量调用精度和预测精度方面显示出重大前景.
- 人工智能增强了电子健康记录 (EHR) 系统的可用性,用于基于NGS的诊断.
- 对于当前生物信息学工具中的方法一致性,数据格式,准确度指标和数据库更新规律性存在担忧.
结论:
- 人工智能正在改变基于NGS的罕见病研究和诊断.
- 解决标准化和数据管理方面的挑战对于人工智能在研发和开发领域的持续成功至关重要.
- 需要对人工智能算法和数据库集成进行进一步的研究,才能充分发挥NGS在理解罕见遗传疾病方面的潜力.
相关概念视频
03:00Next-generation Sequencing
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
02:46Genetic Screens
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
01:05Single Nucleotide Polymorphisms-SNPs
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,...