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Validation of single nucleotide polymorphism quantification in pooled DNA samples with SNaPIT™

A glycosylase-mediated methods for polymorphism detection method

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Abstract

Association studies using genome scans to identify quantitative trait loci for multifactorial disorders, with anything approaching reasonable power, have been compromised by the need for a very dense array of genetic markers and large numbers of affected individuals. These requirements impose enormous burdens on the genotyping capacity for most laboratories. DNA pooling has been proposed as a possible approach to reduce genotyping costs and effort. We report on the application of the SNaPIT™ technology to evaluate allele frequencies in pooled DNA samples and conclude that it offers a cost effective, efficient and accurate estimator and provides several advantages over competing technologies in this regard.

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Correspondence to Sarah Curran.

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Curran, S., Hill, L., O’Grady, G. et al. Validation of single nucleotide polymorphism quantification in pooled DNA samples with SNaPIT™. Mol Biotechnol 22, 253–262 (2002). https://doi.org/10.1385/MB:22:3:253

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