本部分来源:美芳师姐
第一部分 全基因组关联分析(GWAS)
1.Genotyping/SNP calling(基因型获取)
2.Quality Control(质量控制)(原理)
2.1 Individual level (原理)
- Gender check
- Missing check (>5%)
- Heterozygosity
- Duplication
2.2 SNP level (原理)
- Missing check (>2%)
- HWE test (<0.00001)
- MAF check (<0.01 or <0.05)
2.3 Population structure(群体分层)
- Pricipal component analysis(PCA)
3.Imputation(基因型插补)(原理)
4.GWAS & Replication(关联分析和重复)
4.1 Heritability estimation
(1)Raw data based method
(2)Summary statistics based methods
4.2 Single-trait based GWAS
- PLINK
- FUMA
- Haploview
Multi-trait based GWAS
5.Meta Analysis(荟萃分析)
第二部分 下游分析(Post GWAS)
6.Fine Mapping(精细映射)
7.Anotation(功能注释)
7.1 SNP-level
7.2 Gene-level
7.3 Comprehensive
8.Gene Enrichment(富集分析)
9.PIP(蛋白质互作网络分析)使用教程
- STRING
- Cytoscape
- PathCards
10.Selction Analysis(选择信号检测)
(1)Webset
(2)Tools