Imperial College London
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ProfessorMichaelJohnson

Faculty of Medicine, Department of Brain Sciences

Professor of Neurology and Genomic Medicine
 
 
 
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Contact

 

m.johnson Website

 
 
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Location

 

E419Burlington DanesHammersmith Campus

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Summary

 

Publications

Citation

BibTex format

@article{Speed:2017:10.1038/ng.3865,
author = {Speed, D and Cai, N and Johnson, MR and Nejentsev, S and Balding, DJ},
doi = {10.1038/ng.3865},
journal = {Nature Genetics},
pages = {986--992},
title = {Reevaluation of SNP heritability in complex human traits},
url = {http://dx.doi.org/10.1038/ng.3865},
volume = {49},
year = {2017}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - SNP heritability, the proportion of phenotypic variance explained by SNPs, has been reported for many hundreds of traits. Its estimation requires strong prior assumptions about the distribution of heritability across the genome, but current assumptions have not been thoroughly tested. By analyzing imputed data for a large number of human traits, we empirically derive a model that more accurately describes how heritability varies with minor allele frequency (MAF), linkage disequilibrium (LD) and genotype certainty. Across 19 traits, our improved model leads to estimates of common SNP heritability on average 43% (s.d. 3%) higher than those obtained from the widely used software GCTA and 25% (s.d. 2%) higher than those from the recently proposed extension GCTA-LDMS. Previously, DNase I hypersensitivity sites were reported to explain 79% of SNP heritability; using our improved heritability model, their estimated contribution is only 24%.
AU  - Speed,D
AU  - Cai,N
AU  - Johnson,MR
AU  - Nejentsev,S
AU  - Balding,DJ
DO  - 10.1038/ng.3865
EP  - 992
PY  - 2017///
SN  - 1061-4036
SP  - 986
TI  - Reevaluation of SNP heritability in complex human traits
T2  - Nature Genetics
UR  - http://dx.doi.org/10.1038/ng.3865
UR  - http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000404253300006&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
UR  - http://hdl.handle.net/10044/1/50669
VL  - 49
ER  -
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