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Article: A generalised threshold defined case-control selection strategy for QTL association mapping in pooled DNA samples

TitleA generalised threshold defined case-control selection strategy for QTL association mapping in pooled DNA samples
Authors
Issue Date2001
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www.interscience.wiley.com/jpages/0148-7299:1/
Citation
American Journal Of Medical Genetics - Neuropsychiatric Genetics, 2001, v. 105 n. 7, p. 564-565 How to Cite?
AbstractDisequilibrium mapping is an essential tool in the identification of genes underlying complex traits. DNA pooling is a technique that allows one to perform a case-control association study without genotyping the individual DNA samples, but rather a single pool of cases and a single pool of controls. Selecting from the extremes of the trait distribution for analysis greatly enhances power in a sample. However, from where in the trait distribution should we select the two pools, to achieve optimal power in a sample? Through analytical derivation and optimisation, we provide robust guidelines for optimal pooling fractions. Our studies suggest that in the absence of experimental error a symmetric sampling scheme of genotyping individuals from the 20-30% tails of the trait distribution is optimal under a variety of possible genetic models underlying the trait of interest. We also consider the effects of experimental noise from sources such as measurement error and unequal DNA contribution from individuals. We show that a standard error of up to 1% in allele frequency estimation can be tolerated without great loss in power, but the optimal symmetric pooling fraction is decreased to 10-20%.
Persistent Identifierhttp://hdl.handle.net/10722/143661
ISSN
2014 Impact Factor: 3.416
2014 SCImago Journal Rankings: 1.643

 

DC FieldValueLanguage
dc.contributor.authorJawaid, Aen_HK
dc.contributor.authorPurcell, Sen_HK
dc.contributor.authorCherny, Sen_HK
dc.contributor.authorSham, Pen_HK
dc.date.accessioned2011-12-16T08:09:11Z-
dc.date.available2011-12-16T08:09:11Z-
dc.date.issued2001en_HK
dc.identifier.citationAmerican Journal Of Medical Genetics - Neuropsychiatric Genetics, 2001, v. 105 n. 7, p. 564-565en_HK
dc.identifier.issn1552-4841en_HK
dc.identifier.urihttp://hdl.handle.net/10722/143661-
dc.description.abstractDisequilibrium mapping is an essential tool in the identification of genes underlying complex traits. DNA pooling is a technique that allows one to perform a case-control association study without genotyping the individual DNA samples, but rather a single pool of cases and a single pool of controls. Selecting from the extremes of the trait distribution for analysis greatly enhances power in a sample. However, from where in the trait distribution should we select the two pools, to achieve optimal power in a sample? Through analytical derivation and optimisation, we provide robust guidelines for optimal pooling fractions. Our studies suggest that in the absence of experimental error a symmetric sampling scheme of genotyping individuals from the 20-30% tails of the trait distribution is optimal under a variety of possible genetic models underlying the trait of interest. We also consider the effects of experimental noise from sources such as measurement error and unequal DNA contribution from individuals. We show that a standard error of up to 1% in allele frequency estimation can be tolerated without great loss in power, but the optimal symmetric pooling fraction is decreased to 10-20%.en_HK
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www.interscience.wiley.com/jpages/0148-7299:1/en_HK
dc.relation.ispartofAmerican Journal of Medical Genetics - Neuropsychiatric Geneticsen_HK
dc.titleA generalised threshold defined case-control selection strategy for QTL association mapping in pooled DNA samplesen_HK
dc.typeArticleen_HK
dc.identifier.emailCherny, S: cherny@hku.hken_HK
dc.identifier.emailSham, P: pcsham@hku.hken_HK
dc.identifier.authorityCherny, S=rp00232en_HK
dc.identifier.authoritySham, P=rp00459en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.scopuseid_2-s2.0-33749092581en_HK
dc.identifier.volume105en_HK
dc.identifier.issue7en_HK
dc.identifier.spage564en_HK
dc.identifier.epage565en_HK
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridJawaid, A=12787441800en_HK
dc.identifier.scopusauthoridPurcell, S=7005489464en_HK
dc.identifier.scopusauthoridCherny, S=7004670001en_HK
dc.identifier.scopusauthoridSham, P=34573429300en_HK

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