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Concepts, estimation and interpretation of SNP-based heritability.
Nature Genetics ( IF 30.8 ) Pub Date : 2017-Aug-30 , DOI: 10.1038/ng.3941
Jian Yang , Jian Zeng , Michael E Goddard , Naomi R Wray , Peter M Visscher

Narrow-sense heritability (h2) is an important genetic parameter that quantifies the proportion of phenotypic variance in a trait attributable to the additive genetic variation generated by all causal variants. Estimation of h2 previously relied on closely related individuals, but recent developments allow estimation of the variance explained by all SNPs used in a genome-wide association study (GWAS) in conventionally unrelated individuals, that is, the SNP-based heritability (). In this Perspective, we discuss recently developed methods to estimate for a complex trait (and genetic correlation between traits) using individual-level or summary GWAS data. We discuss issues that could influence the accuracy of , definitions, assumptions and interpretations of the models, and pitfalls of misusing the methods and misinterpreting the models and results.

中文翻译:

基于SNP的遗传力的概念,估计和解释。

狭义遗传力(h 2)是重要的遗传参数,可量化性状中表型变异的比例,该变异归因于所有因果变异产生的加性遗传变异。h 2的估计以前依赖于密切相关的个体,但最近的发展允许估算由与常规无关的个体进行的全基因组关联研究(GWAS)中使用的所有SNP所解释的方差,即基于SNP的遗传力()。在本《观点》中,我们讨论了最近开发的使用个体水平或汇总GWAS数据估算复杂性状(性状之间的遗传相关性)的方法。我们讨论了可能影响模型准确性,定义,假设和解释的问题,以及滥用方法以及误解模型和结果的陷阱。
更新日期:2017-08-31
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