Concepts, estimation and interpretation of SNP-based heritability

Yang, Jian, Zeng, Jian, Goddard, Michael E., Wray, Naomi R. and Visscher, Peter M. (2017) Concepts, estimation and interpretation of SNP-based heritability. Nature Genetics, 49 9: 1304-1310. doi:10.1038/ng.3941

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Author Yang, Jian
Zeng, Jian
Goddard, Michael E.
Wray, Naomi R.
Visscher, Peter M.
Title Concepts, estimation and interpretation of SNP-based heritability
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1546-1718
Publication date 2017-09-01
Year available 2017
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1038/ng.3941
Open Access Status Not yet assessed
Volume 49
Issue 9
Start page 1304
End page 1310
Total pages 7
Place of publication New York, United States
Publisher Nature Publishing Group
Language eng
Abstract Narrow-sense heritability (h(2)) 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 h(2) 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 (h(SNPh)(2)). In this Perspective, we discuss recently developed methods to estimate h(SNPh)(2) 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 h(SNPh)(2), definitions, assumptions and interpretations of the models, and pitfalls of misusing the methods and misinterpreting the models and results.
Keyword Body-Mass Index
Genome-Wide Association
Missing Heritability
Human Height
Genetic Architecture
Complex Diseases
Partitioning Heritability
Linkage Disequilibrium
Common Variants
Human Traits
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collections: HERDC Pre-Audit
Queensland Brain Institute Publications
Institute for Molecular Bioscience - Publications
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Citation counts: TR Web of Science Citation Count  Cited 7 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 7 times in Scopus Article | Citations
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