PWAS Hub:探索复杂疾病与性依赖的基因相关性
Roei Zucker1, Guy Kelman2, Michal Linial3
1The Rachel and Selim Benin School of Computer Science and Engineering, The Hebrew University of Jerusalem, Jerusalem 91904, Israel.
Nucleic acids research
|November 20, 2024
概括
蛋白质广泛关联研究 (PWAS) 通过蛋白质数据和机器学习识别基因疾病联系. PWAS Hub平台在英国生物库数据中探索了这些关联,揭示了72%的测试表型的遗传联系.
科学领域:
- 遗传学 是一个遗传学.
- 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:
- 传统的全基因组协会研究 (GWAS) 专注于遗传变异.
- 整个蛋白质组的协会研究 (PWAS) 提供了一个基于蛋白质的补充方法.
- PWAS利用机器学习来预测遗传变异对蛋白质编码基因的影响.
研究的目的:
- 介绍PWAS Hub (v1.2),这是一个探索基因疾病关联的平台.
- 分析819种疾病和表型的英国生物库数据.
- 为了研究性别特异性基因对疾病表型的影响.
主要方法:
- PWAS采用两阶段的方法:预测基因的变异效应,并将其汇总成基因损害得分.
- 机器学习模型用于生成基因效应得分.
- 病例控制统计测试将基因损伤得分与表型联系起来.
主要成果:
- PWAS Hub从英国生物库数据 (500000个人) 中分析了819种疾病/表型.
- 72%的测试表型中发现了基因关联.
- 观察到高血压,2型糖尿病和血的性别特异性遗传信号.
结论:
- PWAS Hub是发现基因疾病关联的宝贵资源.
- 该平台有助于研究对常见疾病的遗传贡献.
- PWAS Hub强调考虑性别特异性遗传影响的重要性.
更多相关视频
09:37Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
9.7K
11:35Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
Published on: August 21, 2016
12.9K
相关概念视频
Genome-wide Association Studies-GWAS
12.5K
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...
12.5K
Sex-linked Disorders
100.5K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
100.5K
Pedigree Analysis
84.0K
Overview
84.0K
The Ratio of X Chromosome to Autosomes
8.4K
In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female...
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female...
8.4K
X-linked Traits
53.6K
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
53.6K
Human Genetics
535
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
535
