title: Inferring relative proportions of DNA variants from sequencing electropherograms.
abstract: BACKGROUND
  Determination of the relative copy number of single-nucleotide sequence variants (SNVs) within a DNA sample is a frequent experimental goal. Various methods can be applied to this problem, although hybridization-based approaches tend to suffer from high-setup cost and poor adaptability, while others (such as pyrosequencing) may not be accessible to all laboratories. The potential to extract relative copy number information from standard dye-terminator electropherograms has been little explored, yet this technology is cheap and widely accessible. Since several biologically important loci have paralogous copies that interfere with genotyping, and which may also display copy number variation (CNV), there are many situations in which determination of the relative copy number of SNVs is desirable.
  
  
  RESULTS
  We have developed a desktop application, QSVanalyzer, which allows high-throughput quantification of the proportions of DNA sequences containing SNVs. In reconstruction experiments, QSVanalyzer accurately estimated the known relative proportions of SNVs. By analyzing a large panel of genomic DNA samples, we demonstrate the ability of the software to analyze not only common biallelic SNVs, but also SNVs within a locus at which gene conversion between four genomic paralogs operates, and within another that is subject to CNV.
  
  
  METHODS
  QSVanalyzer is freely available at http://dna.leeds.ac.uk/qsv/. It requires the Microsoft .NET framework version 2.0, which can be installed on all Microsoft operating systems from Windows 98 onwards.
  
  
  BACKGROUND
  msjimc@leeds.ac.uk
  
  
  BACKGROUND
  Supplementary data are available at Bioinformatics online.
authors.affiliation: Leeds Institute of Molecular Medicine, Wellcome Trust Brenner Building, University of Leeds, St James's University Hospital, Beckett Street, Leeds LS9 7TF, UK. msjimc@leeds.ac.uk
authors.forename: I M
authors.initials: IM
authors.lastname: Carr
authors.forename: J I
authors.initials: JI
authors.lastname: Robinson
authors.forename: R
authors.initials: R
authors.lastname: Dimitriou
authors.forename: A F
authors.initials: AF
authors.lastname: Markham
authors.forename: A W
authors.initials: AW
authors.lastname: Morgan
authors.forename: D T
authors.initials: DT
authors.lastname: Bonthron
mesh_terms: D001483:Base Sequence; D019295:Computational Biology / Q000379:methods*; D004247:DNA / Q000737:chemistry*; D056915:DNA Copy Number Variations; D005838:Genotype; D008969:Molecular Sequence Data; D017422:Sequence Analysis, DNA / Q000379:methods*; D012984:Software
chemical_list: D004247:DNA