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Genotyping Pooled DNA on Microarrays: A Systematic Genome Screen of Thousands of SNPs in Large Samples to Detect QTLs for Complex Traits

Butcher, Lee M and Meaburn, Emma and Liu, Lin and Fernandes, Cathy and Hill, Linzy and Al-Chalabi, Ammar and Plomin, Robert and Schalkwyk, Leo and Craig, Ian W (2004) 'Genotyping Pooled DNA on Microarrays: A Systematic Genome Screen of Thousands of SNPs in Large Samples to Detect QTLs for Complex Traits.' Behavior Genetics, 34 (5). pp. 549-555. ISSN 0001-8244

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Abstract

Large samples and systematic screens of thousands of DNA markers are needed to detect quantitative trait loci (QTLs) of small effect size. One approach to conduct systematic genome scans for association is to use microarrays which, although expensive and non-reusable, simultaneously genotype thousands of single-nucleotide polymorphisms (SNPs). This brief report provides proof of principle that groups of pooled DNA (for example cases and controls) can be genotyped reliably on a microarray. DNA was pooled for 105 Caucasian males and genotyped three times on microarrays for more than 10,000 SNPs (Affymetrix GeneChip® Mapping 10K Array Xba 131). The average correlation was 0.973 between the allele frequency estimates for the three microarrays using the same DNA pool. The correlation was 0.923 between the average of the three microarray estimates using pooled DNA and individual genotyping estimates for a Caucasian population as provided by Affymetrix (NetAff x™). Thus, genotyping pooled DNA on microarrays can provide a systematic and powerful approach for identifying QTL associations for complex traits including behavioral dimensions and disorders.

Item Type: Article
Uncontrolled Keywords: association; DNA pooling; high-throughput genotyping; microarrays; quantitative trait loci (QTLs); single nucleotide polymorphisms (SNPs)
Subjects: Q Science > QH Natural history > QH301 Biology
Divisions: Faculty of Science and Health
Faculty of Science and Health > Life Sciences, School of
SWORD Depositor: Elements
Depositing User: Elements
Date Deposited: 03 Feb 2015 16:48
Last Modified: 15 Jan 2022 00:32
URI: http://repository.essex.ac.uk/id/eprint/10996

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