Department of Epidemiology, Harvard School of Public Health, Boston, MA 02115, USA.
Hum Genet. 2012 Oct;131(10):1655-64. doi: 10.1007/s00439-012-1199-6. Epub 2012 Jul 21.
Heritability, the fraction of phenotypic variation explained by genetic variation, has been estimated for many phenotypes in a range of populations, organisms, and time points. The recent development of efficient genotyping and sequencing technology has led researchers to attempt to identify the genetic variants responsible for the genetic component of phenotype directly via GWAS. The gap between the phenotypic variance explained by GWAS results and those estimated from classical heritability methods has been termed the "missing heritability problem". In this work, we examine modern methods for estimating heritability, which use the genotype and sequence data directly. We discuss them in the context of classical heritability methods, the missing heritability problem, and describe their implications for understanding the genetic architecture of complex phenotypes.
遗传力是指由遗传变异解释的表型变异的分数，已经在许多不同的人群、生物和时间点的表型中进行了估计。最近高效的基因分型和测序技术的发展使得研究人员试图通过全基因组关联研究（GWAS）直接鉴定导致表型遗传成分的遗传变异。GWAS 结果所解释的表型方差与经典遗传力方法所估计的方差之间的差距被称为“遗传力缺失问题”。在这项工作中，我们研究了使用基因型和序列数据直接估计遗传力的现代方法。我们在经典遗传力方法、遗传力缺失问题的背景下讨论了这些方法，并描述了它们对理解复杂表型的遗传结构的意义。
