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Haplotype block partitioning and tag SNP selection using genotype data and their applications to association studies.

作者信息

Zhang Kui, Qin Zhaohui S, Liu Jun S, Chen Ting, Waterman Michael S, Sun Fengzhu

机构信息

Molecular and Computational Biology Program, Department of Biological Sciences, University of Southern California, Los Angeles, California 90089-1113, USA.

出版信息

Genome Res. 2004 May;14(5):908-16. doi: 10.1101/gr.1837404. Epub 2004 Apr 12.


DOI:10.1101/gr.1837404
PMID:15078859
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC479119/
Abstract

Recent studies have revealed that linkage disequilibrium (LD) patterns vary across the human genome with some regions of high LD interspersed by regions of low LD. A small fraction of SNPs (tag SNPs) is sufficient to capture most of the haplotype structure of the human genome. In this paper, we develop a method to partition haplotypes into blocks and to identify tag SNPs based on genotype data by combining a dynamic programming algorithm for haplotype block partitioning and tag SNP selection based on haplotype data with a variation of the expectation maximization (EM) algorithm for haplotype inference. We assess the effects of using either haplotype or genotype data in haplotype block identification and tag SNP selection as a function of several factors, including sample size, density or number of SNPs studied, allele frequencies, fraction of missing data, and genotyping error rate, using extensive simulations. We find that a modest number of haplotype or genotype samples will result in consistent block partitions and tag SNP selection. The power of association studies based on tag SNPs using genotype data is similar to that using haplotype data.

摘要

相似文献

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本文引用的文献

[1]
The Interaction of Selection and Linkage. I. General Considerations; Heterotic Models.

Genetics. 1964-1

[2]
Haplotype tagging single nucleotide polymorphisms and association studies.

Hum Hered. 2003

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Nat Rev Genet. 2003-8

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Am J Hum Genet. 2003-8

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Haplotype block partition with limited resources and applications to human chromosome 21 haplotype data.

Am J Hum Genet. 2003-7

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An MDL method for finding haplotype blocks and for estimating the strength of haplotype block boundaries.

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Nat Genet. 2003-3

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Genet Epidemiol. 2003-1

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Am J Hum Genet. 2002-11

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Haplotype block structure and its applications to association studies: power and study designs.

Am J Hum Genet. 2002-12

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