Evidence map›Paper›PMID 12796855›Full record

ArticleAmerican journal of human genetics2003

Selection of genetic markers for association analyses, using linkage disequilibrium and haplotypes.

Zhaoling Meng, Dmitri V Zaykin, Chun-Fang Xu, Michael Wagner, Margaret G Ehm

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Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.

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50citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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3 · Its place in the literature

Who cites it

50 citing papers in PubMed.

  1. Article
  2. Review
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  12. Efficient techniques for genotype-phenotype correlational analysis.BMC medical informatics and decision making · 2013
    Article
  13. Article
  14. Article
  15. Article
  16. Variable set enrichment analysis in genome-wide association studies.European journal of human genetics : EJHG · 2011
    Article
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  18. Article
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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Zhaoling MengBioinformatics Research Center, Campus Box 7566, North Carolina State University, Raleigh, NC 27695-7566, USA. zmeng@unity.ncsu.edu
Dmitri V Zaykin
Chun-Fang Xu
Michael Wagner
Margaret G Ehm

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The genotyping of closely spaced single-nucleotide polymorphism (SNP) markers frequently yields highly correlated data, owing to extensive linkage disequilibrium (LD) between markers. The extent of LD varies widely across the genome and drives the number of frequent haplotypes observed in small regions. Several studies have illustrated the possibility that LD or haplotype data could be used to select a subset of SNPs that optimize the information retained in a genomic region while reducing the genotyping effort and simplifying the analysis. We propose a method based on the spectral decomposition of the matrices of pairwise LD between markers, and we select markers on the basis of their contributions to the total genetic variation. We also modify Clayton's "haplotype tagging SNP" selection method, which utilizes haplotype information. For both methods, we propose sliding window-based algorithms that allow the methods to be applied to large chromosomal regions. Our procedures require genotype information about a small number of individuals for an initial set of SNPs and selection of an optimum subset of SNPs that could be efficiently genotyped on larger numbers of samples while retaining most of the genetic variation in samples. We identify suitable parameter combinations for the procedures, and we show that a sample size of 50-100 individuals achieves consistent results in studies of simulated data sets in linkage equilibrium and LD. When applied to experimental data sets, both procedures were similarly effective at reducing the genotyping requirement while maintaining the genetic information content throughout the regions. We also show that haplotype-association results that Hosking et al. obtained near CYP2D6 were almost identical before and after marker selection.

Indexed as

Genetic MarkersHaplotypesLinkage DisequilibriumAllelesHumansPolymorphism, Single NucleotideGenetic Markers

Identifiers

PMID12796855
PMCPMC1180574

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.