Transcriptome wide association studies: general framework and methods

作     者：Yuhan Xie Nayang Shan Hongyu Zhao Lin Hou Yuhan Xie;Nayang Shan;Hongyu Zhao;Lin Hou

作者机构：Department of BiostatisticsSchool of Public HealthYale UniversityNew HavenCT 06510USA Center for Statistical ScienceTsinghua UniversityBeijing 100084China Department of Industrial EngineeringTsinghua UniversityBeijing 100084China MOE Key Laboratory of BioinformaticsSchool of Life SciencesTsinghua UniversityBeijing 100084China 

出 版 物：《Quantitative Biology》 (定量生物学（英文版）)

年 卷 期：2021年第9卷第2期

页      面：141-150页

核心收录：

学科分类：0710[理学-生物学] 07[理学] 08[工学] 09[农学] 071007[理学-遗传学] 0901[农学-作物学] 0836[工学-生物工程] 090102[农学-作物遗传育种] 

基　　金：National Natural Science Foundation of China(No.11601259) Shanghai Municipal Science and Technology Major Project(No.2017SHZDZX01).Y.X.and N.S.were supported in part by the China Scholarship Council,and H.Z.was supported in part by NIH grant R01GM122078,NSF grants DMS 1713120 and DMS 1902903 

主　　题：TWAS gene imputation gene-trait association test eQTL studies GWAS 

摘      要：Background:Genome-wide association studies(GWAS)have succeeded in identifying tens of thousands of genetic variants associated with complex human traits during the past decade,however,they are still hampered by limited statistical power and difficulties in biological *** the recent progress in expression quantitative trait loci(eQTL)studies,transcriptome-wide association studies(TWAS)provide a framework to test for gene-trait associations by integrating information from GWAS and eQTL ***:In this review,we will introduce the general framework of TWAS,the relevant resources,and the computational *** of the original TWAS methods will also be ***,we will briefly introduce methods that are closely related to TWAS,including MR-based methods and colocalization *** and difference between these approaches will be ***:Finally,we will summarize strengths,limitations,and potential directions for TWAS.