1 Introduction Advances in human genetics have facilitated the investigation of the genetic architecture underlying numerous complex traits.In particular,studies of quantitative expression trait loci(eQTL)have played ...1 Introduction Advances in human genetics have facilitated the investigation of the genetic architecture underlying numerous complex traits.In particular,studies of quantitative expression trait loci(eQTL)have played a pivotal role in elucidating how genetic variants influence gene expression across cell types.This progress has enabled the quantification of effect size for disease genetic risk loci and the construction of binary relational datasets linking diseases to their respective disease genes,such as Fantom5[1]and DisGeNET[2].展开更多
基金supported by the National Natural Science Foundation of China(Grant Nos.62172318,62372349,62132015).
文摘1 Introduction Advances in human genetics have facilitated the investigation of the genetic architecture underlying numerous complex traits.In particular,studies of quantitative expression trait loci(eQTL)have played a pivotal role in elucidating how genetic variants influence gene expression across cell types.This progress has enabled the quantification of effect size for disease genetic risk loci and the construction of binary relational datasets linking diseases to their respective disease genes,such as Fantom5[1]and DisGeNET[2].