Identification of tag single-nucleotide polymorphisms in regions with varying linkage disequilibrium

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作者
Priya Duggal
Elizabeth M Gillanders
Rasika A Mathias
Grace P Ibay
Alison P Klein
Agnes B Baffoe-Bonnie
Liang Ou
Ian P Dusenberry
Ya-Yu Tsai
Peter S Chines
Betty Q Doan
Joan E Bailey-Wilson
机构
[1] NHGRI/NIH,Inherited Disease Research Branch
[2] Division of Population Science,Fox Chase Cancer Center
[3] Johns Hopkins Medical School,CIDR
[4] NHGRI/NIH,Genome Technology Branch
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Linkage Disequilibrium; Expectation Maximization Algorithm; Strong Linkage Disequilibrium; Genetic Analysis Workshop; Multipoint Linkage Analysis;
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摘要
We compared seven different tagging single-nucleotide polymorphism (SNP) programs in 10 regions with varied amounts of linkage disequilibrium (LD) and physical distance. We used the Collaborative Studies on the Genetics of Alcoholism dataset, part of the Genetic Analysis Workshop 14. We show that in regions with moderate to strong LD these programs are relatively consistent, despite different parameters and methods. In addition, we compared the selected SNPs in a multipoint linkage analysis for one region with strong LD. As the number of selected SNPs increased, the LOD score, mean information content, and type I error also increased.
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