- 基础概念
reference genome, consensus sequence
"global reference genome track hub" (UCSC)
（目前的序列比对算法需要考虑同一个位点有多种核苷酸的情况）
somatic and germline SNV/SNP（略）
allele, allele frequency（略）
haplotype
homozygous, heterozygous
linkage disequilibrium (LD)
Tag SNP
correlation and causation
QTL, eQTL/expression QTL, eQTL analysis
https://www.cnblogs.com/Acceptyly/p/3904108.html
- GWAS流程
Marees, A. T., de Kluiver, H., Stringer, S., Vorspan, F., Curis, E., Marie-Claire, C., & Derks, E. M. (2018). A tutorial on conducting genome-wide association studies: Quality control and statistical analysis. International journal of methods in psychiatric research, 27(2), e1608. https://doi.org/10.1002/mpr.1608https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6001694/
- alignment to a reference
- variant calling
- quality control
- imputation
- association analysis
- multiple hypothesis testing
- replication in an independent cohort
- further correlative analysis
- GotCloud分析流程
施工中
- 相关性和因果性
施工中
