title: Validation of single nucleotide polymorphism quantification in pooled DNA samples with SNaPIT. A glycosylase-mediated methods for polymorphism detection method.
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.
authors.affiliation: S.G.D.P. Research Centre, Institute of Psychiatry, Box Pobo, De Crespigny Park, Denmark Hill, London SE5 8AF, UK. s-curran@iop.kcl.ac.uk
authors.forename: Sarah
authors.initials: S
authors.lastname: Curran
authors.forename: Linzy
authors.initials: L
authors.lastname: Hill
authors.forename: Geraldine
authors.initials: G
authors.lastname: O'Grady
authors.forename: Dragana
authors.initials: D
authors.lastname: Turic
authors.forename: Philip
authors.initials: P
authors.lastname: Asherson
authors.forename: Eric
authors.initials: E
authors.lastname: Taylor
authors.forename: Pak
authors.initials: P
authors.lastname: Sham
authors.forename: Ian
authors.initials: I
authors.lastname: Craig
authors.forename: Pat
authors.initials: P
authors.lastname: Vaughan
mesh_terms: D002874:Chromosome Mapping / Q000379:methods; D004247:DNA / Q000032:analysis / Q000235:genetics* / Q000378:metabolism*; D045647:DNA Glycosylases; D004252:DNA Mutational Analysis / Q000379:methods*; D005787:Gene Frequency / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D009699:N-Glycosyl Hydrolases / Q000378:metabolism*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D016415:Sequence Alignment
chemical_list: D004247:DNA; D045647:DNA Glycosylases; D009699:N-Glycosyl Hydrolases