title: QSNPlite, a software system for quantitative analysis of SNPs based on capillary array SSCP analysis.
abstract: We present a newly developed software called "QSNPlite" that comprehensively interprets the data of SSCP and sequencing analyses obtained from capillary array electrophoresis systems used in the quantitative characterization of SNPs. QSNPlite assists in the genotyping of individuals with SNPs and in estimating the allele frequencies of SNPs using pooled DNA. We show that this estimation is accurate (mean absolute error, 1.4%) by comparing the results of the pooled analysis using QSNPlite with the true frequencies based on the allele counting after performing individual genotypings. The QSNPlite program runs on Windows XP and can be used to determine the allele frequencies of SNPs among a large number of individuals, such as in association studies of disease-responsible genes using the candidate gene approach.
authors.affiliation: Division of Genome Analysis, Research Center for Genetic Information, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan. ttahira@gen.kyushu-u.ac.jp
authors.forename: Tomoko
authors.initials: T
authors.lastname: Tahira
authors.forename: Yuko
authors.initials: Y
authors.lastname: Okazaki
authors.forename: Kenichi
authors.initials: K
authors.lastname: Miura
authors.forename: Aki
authors.initials: A
authors.lastname: Yoshinaga
authors.forename: Kazumi
authors.initials: K
authors.lastname: Masumoto
authors.forename: Koichiro
authors.initials: K
authors.lastname: Higasa
authors.forename: Yoji
authors.initials: Y
authors.lastname: Kukita
authors.forename: Kenshi
authors.initials: K
authors.lastname: Hayashi
mesh_terms: D019075:Electrophoresis, Capillary; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D015203:Reproducibility of Results; D017422:Sequence Analysis, DNA / Q000379:methods*; D012984:Software