Open AccessAdvances and challenges in quantitative delineation of the genetic architecture of complex traits
Author(s) -
Tang Hua,
He Zihuai
Publication year - 2021
Publication title -
quantitative biology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.707
H-Index - 15
eISSN - 2095-4697
pISSN - 2095-4689
DOI - 10.15302/j-qb-021-0249
Subject(s) - genome wide association study , genetic architecture , trait , heritability , quantitative trait locus , genetic association , computational biology , biology , missing heritability problem , phenotype , evolutionary biology , genetic variants , data science , genetics , computer science , single nucleotide polymorphism , gene , genotype , programming language
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.