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TripletDGC:assessing critical cell types of disease genes by integrating single-cell genomics and human genetics
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作者 Yaoqi SHOU Bingbo WANG Zitian YANG 《Frontiers of Computer Science》 2025年第10期147-149,共3页
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
关键词 construction binary relational datasets human genetics investigation genetic architecture genetic risk loci quantitative expression trait loci eqtl single cell genomics genetic variants influence gene expression quantitative expression trait loci
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