转移学习在全基因组协会研究中使用仿制品
Shuangning Li1, Zhimei Ren2, Chiara Sabatti3
1Department of Statistics, Harvard University, Stanford, CA 94305, USA.
概括
这项研究引入了转移学习,以通过敲击来增强条件测试,改善在不同人群中发现遗传关联的发现. 这种方法有助于通过利用外部数据开发更准确的多基因风险评分.
科学领域:
- 遗传学 遗传学 是一个
- 统计遗传学 统计遗传学
- 机器学习 机器学习
背景情况:
- 全基因组关联研究 (GWAS) 需要分析不同祖先的遗传变异的方法.
- 利用外部数据集对于提高遗传关联测试中的统计能力至关重要.
研究的目的:
- 介绍和比较转移学习方法,以通过敲击来增强条件测试.
- 解决需要有原则的方法来解释和学习不同种群中的遗传变异的需求.
- 改善在代表性不足的群体中发现遗传关联.
主要方法:
- 开发和比较替代转移学习技术.
- 将转移学习应用于使用模仿的条件测试.
- 对多种表型的英国生物库数据的分析.
主要成果:
- 转移学习显著增加了条件测试的力量通过淘汰.
- 这些方法有效地利用来自外部数据集的先前信息.
- 从少数群体的数据中发现基因关联的发现得到了改善.
结论:
- 转移学习为将外部数据纳入遗传关联研究提供了一种原则性方法.
- 这种方法提高了基因关联的识别,特别是在不同的祖先.
- 这些发现为更准确的多基因风险评分开发铺平了道路.
相关概念视频
Genome-wide Association Studies-GWAS
14.2K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
14.2K
Improving Translational Accuracy
11.9K
Base complementarity between the three base pairs of mRNA codon and the tRNA anticodon is not a failsafe mechanism. Inaccuracies can range from a single mismatch to no correct base pairing at all. The free energy difference between the correct and nearly correct base pairs can be as small as 3 kcal/ mol. With complementarity being the only proofreading step, the estimated error frequency would be one wrong amino acid in every 100 amino acids incorporated. However, error frequencies observed in...
11.9K
Comparing Copy Number Variations and SNPs
17.9K
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%...
17.9K
In-vitro Mutagenesis
14.2K
To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.
14.2K
Single Nucleotide Polymorphisms-SNPs
15.9K
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,...
15.9K
Evolutionary Relationships through Genome Comparisons
6.1K
Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
6.1K


