Advances and challenges in quantitative delineation of the genetic architecture of complex traits  

作　　者：Hua Tang Zihuai He 

机构地区：[1]Department of Genetics,Stanford University,Stanford,CA 94305,USA [2]Department of Neurology and Neurological Sciences,Stanford University,Stanford,CA 94305,USA [3]Quantitative Sciences Unit,Department of Medicine,Stanford University,Stanford,CA 94305,USA

出　　处：《Quantitative Biology》2021年第2期168-184,共17页定量生物学（英文版）

基　　金：This work is supported by NIH R35GM127063(HT)and NIH AG066206(ZH).

摘　　要：Background:Genome-wide association studies(GWAS)have been widely adopted in studies of human complex traits and diseases.Results:This review surveys areas of active research:quantifying and partitioning trait heritability,fine mapping functional variants and integrative analysis,genetic risk prediction of phenotypes,and the analysis of sequencing studies that have identified millions of rare variants.Current challenges and opportunities are highlighted.Conclusion:GWAS have fundamentally transformed the field of human complex trait genetics.Novel statistical and computational methods have expanded the scope of GWAS and have provided valuable insights on the genetic architecture underlying complex phenotypes.

关 键 词：genome-wide association study HERITABILITY rare variants BIOBANK COLOCALIZATION EQTL polygenic risk scores transcriptome-wide association study 

分 类 号：Q78[生物学—分子生物学]