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Title of Journal: Genetica

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Abbravation: Genetica

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Springer Netherlands

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DOI

10.1007/s10896-010-9319-3

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1573-6857

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Identifying disease polymorphisms from case–contro

Authors: L Park
Publish Date: 2010/10/14
Volume: 138, Issue: 11-12, Pages: 1147-1159
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Abstract

In case–control association studies it is typical to observe several associated polymorphisms in a gene region Often the most significantly associated polymorphism is considered to be the disease polymorphism however it is not clear whether it is the disease polymorphism or there is more than one disease polymorphism in the gene region Currently there is no method that can handle these problems based on the linkage disequilibrium LD relationship between polymorphisms To distinguish real disease polymorphisms from markers in LD a method that can detect disease polymorphisms in a gene region has been developed Relying on the LD between polymorphisms in controls the proposed method utilizes modelbased likelihood ratio tests to find disease polymorphisms This method shows reliable Type I and Type II error rates when sample sizes are large enough and works better with resequenced data Applying this method to fine mapping using resequencing or dense genotyping data would provide important information regarding the genetic architecture of complex traitsThis work was supported by the Korea Research Foundation Grant funded by the Korean Government MOEHRD KRF2007532C00017 and by the National Research Foundation of Korea Grant funded by the Korean Government NRF2009353C00061 The key calculations were performed using the supercomputing resource at the Korea Institute of Science and Technology Information KISTI supported by grant No KSC2009S010003 from KISTI


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