| Literature DB >> 12140336 |
Stéphanie Le Hellard1, Stéphane J Ballereau, Peter M Visscher, Helen S Torrance, Jeni Pinson, Stewart W Morris, Marian L Thomson, Colin A M Semple, Walter J Muir, Douglas H R Blackwood, David J Porteous, Kathryn L Evans.
Abstract
We have compared the accuracy, efficiency and robustness of three methods of genotyping single nucleotide polymorphisms on pooled DNAs. We conclude that (i) the frequencies of the two alleles in pools should be corrected with a factor for unequal allelic amplification, which should be estimated from the mean ratio of a set of heterozygotes (k); (ii) the repeatability of an assay is more important than pinpoint accuracy when estimating allele frequencies, and assays should therefore be optimised to increase the repeatability; and (iii) the size of a pool has a relatively small effect on the accuracy of allele frequency estimation. We therefore recommend that large pools are genotyped and replicated a minimum of four times. In addition, we describe statistical approaches to allow rigorous comparison of DNA pool results. Finally, we describe an extension to our ACeDB database that facilitates management and analysis of the data generated by association studies.Mesh：
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Year: 2002 PMID： 12140336 PMCID： PMC137092 DOI： 10.1093/nar/gnf070
Source DB: PubMed Journal: Nucleic Acids Res ISSN： 0305-1048 Impact factor: 16.971