title: VarDetect: a nucleotide sequence variation exploratory tool.
abstract: BACKGROUND
  Single nucleotide polymorphisms (SNPs) are the most commonly studied units of genetic variation. The discovery of such variation may help to identify causative gene mutations in monogenic diseases and SNPs associated with predisposing genes in complex diseases. Accurate detection of SNPs requires software that can correctly interpret chromatogram signals to nucleotides.
  
  
  RESULTS
  We present VarDetect, a stand-alone nucleotide variation exploratory tool that automatically detects nucleotide variation from fluorescence based chromatogram traces. Accurate SNP base-calling is achieved using pre-calculated peak content ratios, and is enhanced by rules which account for common sequence reading artifacts. The proposed software tool is benchmarked against four other well-known SNP discovery software tools (PolyPhred, novoSNP, Genalys and Mutation Surveyor) using fluorescence based chromatograms from 15 human genes. These chromatograms were obtained from sequencing 16 two-pooled DNA samples; a total of 32 individual DNA samples. In this comparison of automatic SNP detection tools, VarDetect achieved the highest detection efficiency.
  
  
  BACKGROUND
  VarDetect is compatible with most major operating systems such as Microsoft Windows, Linux, and Mac OSX. The current version of VarDetect is freely available at http://www.biotec.or.th/GI/tools/vardetect.
authors.affiliation: Genome Institute, National Center for Genetic Engineering and Biotechnology, 113 Thailand Science Park, Phaholyothin Road, Klong 1, Klong Luang, Pathumthani 12120, Thailand. chumpol.nga@biotec.or.th
authors.forename: Chumpol
authors.initials: C
authors.lastname: Ngamphiw
authors.forename: Supasak
authors.initials: S
authors.lastname: Kulawonganunchai
authors.forename: Anunchai
authors.initials: A
authors.lastname: Assawamakin
authors.forename: Ekachai
authors.initials: E
authors.lastname: Jenwitheesuk
authors.forename: Sissades
authors.initials: S
authors.lastname: Tongsima
mesh_terms: D001331:Automation; D001483:Base Sequence; D002845:Chromatography; D019295:Computational Biology / Q000379:methods*; D003627:Data Interpretation, Statistical; D005189:False Positive Reactions; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D023281:Genomics; D006801:Humans; D009711:Nucleotides / Q000737:chemistry; D020641:Polymorphism, Single Nucleotide; D015203:Reproducibility of Results; D017422:Sequence Analysis, DNA / Q000379:methods*; D012984:Software
chemical_list: D009711:Nucleotides