复杂性状遗传结构定量描述的进展与挑战
Advances and challenges in quantitative delineation of the genetic architecture of complex traits.
作者信息
Tang Hua, He Zihuai
机构信息
Department of Genetics, Stanford University, Stanford, CA 94305, USA.
Department of Neurology and Neurological Sciences, Stanford University, Stanford, CA 94305, USA.
出版信息
Quant Biol. 2021 Jun;9(2):168-184. doi: 10.15302/j-qb-021-0249.
Abstract
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.
摘要
背景
全基因组关联研究（GWAS）已在人类复杂性状和疾病研究中得到广泛应用。
结果
本综述调查了当前的活跃研究领域：量化和划分性状遗传力、精细定位功能变异及整合分析、表型的遗传风险预测，以及对已鉴定出数百万罕见变异的测序研究的分析。文中强调了当前面临的挑战和机遇。
结论
GWAS已从根本上改变了人类复杂性状遗传学领域。新颖的统计和计算方法扩大了GWAS的范围，并为复杂表型背后的遗传结构提供了有价值的见解。
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