DNA pooling: A tool for large-scale association studies

P Sham; J S Bader; I Craig; M O'Donovan; M Owen

doi:10.1038/nrg930

DNA pooling: A tool for large-scale association studies

P Sham, J S Bader, I Craig, M O'Donovan, M Owen

Research output: Contribution to journal › Literature review › peer-review

492 Citations (Scopus)

Abstract

DNA pooling is a practical way to reduce the cost of large-scale association studies to identify susceptibility loci for common diseases. Pooling allows allele frequencies in groups of individuals to be measured using far fewer PCR reactions and genotyping assays than are used when genotyping individuals. Here, we discuss recent developments in quantitative genotyping assays and in the design and analysis of pooling studies. Sophisticated pooling designs are being developed that can take account of hidden population stratification, confounders and inter-loci interactions, and that allow the analysis of haplotypes.

Original language	English
Pages (from-to)	862 - 871
Number of pages	10
Journal	NATURE REVIEWS GENETICS
Volume	3
Issue number	11
DOIs	https://doi.org/10.1038/nrg930
Publication status	Published - 1 Nov 2002

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abstract = "DNA pooling is a practical way to reduce the cost of large-scale association studies to identify susceptibility loci for common diseases. Pooling allows allele frequencies in groups of individuals to be measured using far fewer PCR reactions and genotyping assays than are used when genotyping individuals. Here, we discuss recent developments in quantitative genotyping assays and in the design and analysis of pooling studies. Sophisticated pooling designs are being developed that can take account of hidden population stratification, confounders and inter-loci interactions, and that allow the analysis of haplotypes.",

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AB - DNA pooling is a practical way to reduce the cost of large-scale association studies to identify susceptibility loci for common diseases. Pooling allows allele frequencies in groups of individuals to be measured using far fewer PCR reactions and genotyping assays than are used when genotyping individuals. Here, we discuss recent developments in quantitative genotyping assays and in the design and analysis of pooling studies. Sophisticated pooling designs are being developed that can take account of hidden population stratification, confounders and inter-loci interactions, and that allow the analysis of haplotypes.

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DO - 10.1038/nrg930

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JO - NATURE REVIEWS GENETICS

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DNA pooling: A tool for large-scale association studies

Abstract

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