CWAS-Plus:从全基因组测序数据中估计罕见的非编码变异与细胞类型特定的功能数据的类别范围的关联
Yujin Kim1,2, Minwoo Jeong3, In Gyeong Koh1,2
1Department of Integrated Biomedical and Life Science, Korea University, Seoul, 02841, Republic of Korea.
概括
通过整合全基因组测序和功能数据,CWAS-Plus增强了针对大脑疾病的非编码变异分析. 它确定了细胞特异性调节元件与自闭症和阿尔茨海默病的遗传联系.
科学领域:
- 基因组学就是基因组学.
- 神经科学是一个神经科学.
- 生物信息学是一种生物信息学.
背景情况:
- 在cis-regulatory元素中的非编码变体与大脑病理有关.
- 现有的分析工具缺乏关于细胞水平大脑病理和非编码变异关联的细节.
研究的目的:
- 引入CWAS-Plus,这是一个用于非编码变异分析的增强工具.
- 应用CWAS-Plus来识别自闭症谱系障碍和阿尔茨海默病中的非编码变异关联.
主要方法:
- 使用CWAS-Plus,根据全类关联测试 (CWAS) 进行调整.
- 采用全基因组测序和单核测定以测序 (scATAC-seq) 检测转化酶可访问的染色质.
- 在自闭症和阿尔茨海默病数据集中分析了细胞类型特定的增强剂和促进剂.
主要成果:
- 在自闭症谱系障碍的转录因子结合位点中识别了非编码de novo变异关联 (n=7,280).
- 检测到阿尔茨海默病微细胞特异性调节元件中的罕见非编码变异关联 (n=1,087).
结论:
- CWAS-Plus有效地分析大规模全基因组测序数据中的非编码变异.
- 该工具为基因组疾病的细胞类型特定调节元件分析提供了便利.
- CWAS-Plus在识别与大脑病理相关的变异关联方面具有实用性.
相关概念视频
01:11Genome-wide Association Studies-GWAS
13.4K
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...
13.4K
02:54Evolutionary Relationships through Genome Comparisons
5.7K
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...
5.7K