为什么要做fine-mapping？

• 从GWAS分析结果中，排除LD以及特定生物学背景的噪音，鉴定到casual variants对理解disease发生以及鉴定后续受到影响的gene和pathway有重要作用

  “Overcoming LD and identifying the context-specific variants that are causal to a trait is imperative for understanding disease mechanisms and confidently identifying which downstream genes and pathways are affected.” (Broekema et al., 2020, p. 3) (pdf)

• translate GWAS loci to a functional understanding of the associated trait, while taking cell-type- and disease-specific context into account.

  zhuanlan.zhihu.com/p/106...

参考资料

• zhuanlan.zhihu.com/p/106...

fine-mapping｜方法

TWAS-based fine-mapping

• FOCUS：TWAS-fine-mapping methods

  github.com/bogdanlab/foc...