Novel genetic analysis for case-control genome-wide association studies: quantification of power and genomic prediction accuracy.

Genome-wide association studies (GWAS) are routinely conducted for both quantitative and binary (disease) traits. We present two analytical tools for use in the experimental design of GWAS. Firstly, we present power calculations quantifying power in a unified framework for a range of scenarios. In t...

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Main Authors: Sang Hong Lee, Naomi R Wray
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3747270?pdf=render
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spelling doaj-649af62a85214786a9f4cf3b9932e9052020-11-25T01:32:07ZengPublic Library of Science (PLoS)PLoS ONE1932-62032013-01-0188e7149410.1371/journal.pone.0071494Novel genetic analysis for case-control genome-wide association studies: quantification of power and genomic prediction accuracy.Sang Hong LeeNaomi R WrayGenome-wide association studies (GWAS) are routinely conducted for both quantitative and binary (disease) traits. We present two analytical tools for use in the experimental design of GWAS. Firstly, we present power calculations quantifying power in a unified framework for a range of scenarios. In this context we consider the utility of quantitative scores (e.g. endophenotypes) that may be available on cases only or both cases and controls. Secondly, we consider, the accuracy of prediction of genetic risk from genome-wide SNPs and derive an expression for genomic prediction accuracy using a liability threshold model for disease traits in a case-control design. The expected values based on our derived equations for both power and prediction accuracy agree well with observed estimates from simulations.http://europepmc.org/articles/PMC3747270?pdf=render
collection DOAJ
language English
format Article
sources DOAJ
author Sang Hong Lee
Naomi R Wray
spellingShingle Sang Hong Lee
Naomi R Wray
Novel genetic analysis for case-control genome-wide association studies: quantification of power and genomic prediction accuracy.
PLoS ONE
author_facet Sang Hong Lee
Naomi R Wray
author_sort Sang Hong Lee
title Novel genetic analysis for case-control genome-wide association studies: quantification of power and genomic prediction accuracy.
title_short Novel genetic analysis for case-control genome-wide association studies: quantification of power and genomic prediction accuracy.
title_full Novel genetic analysis for case-control genome-wide association studies: quantification of power and genomic prediction accuracy.
title_fullStr Novel genetic analysis for case-control genome-wide association studies: quantification of power and genomic prediction accuracy.
title_full_unstemmed Novel genetic analysis for case-control genome-wide association studies: quantification of power and genomic prediction accuracy.
title_sort novel genetic analysis for case-control genome-wide association studies: quantification of power and genomic prediction accuracy.
publisher Public Library of Science (PLoS)
series PLoS ONE
issn 1932-6203
publishDate 2013-01-01
description Genome-wide association studies (GWAS) are routinely conducted for both quantitative and binary (disease) traits. We present two analytical tools for use in the experimental design of GWAS. Firstly, we present power calculations quantifying power in a unified framework for a range of scenarios. In this context we consider the utility of quantitative scores (e.g. endophenotypes) that may be available on cases only or both cases and controls. Secondly, we consider, the accuracy of prediction of genetic risk from genome-wide SNPs and derive an expression for genomic prediction accuracy using a liability threshold model for disease traits in a case-control design. The expected values based on our derived equations for both power and prediction accuracy agree well with observed estimates from simulations.
url http://europepmc.org/articles/PMC3747270?pdf=render
work_keys_str_mv AT sanghonglee novelgeneticanalysisforcasecontrolgenomewideassociationstudiesquantificationofpowerandgenomicpredictionaccuracy
AT naomirwray novelgeneticanalysisforcasecontrolgenomewideassociationstudiesquantificationofpowerandgenomicpredictionaccuracy
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