ShiftDetector: detection of shift mutations

Bioinformatics. 2002 Aug;18(8):1137-8. doi: 10.1093/bioinformatics/18.8.1137.

Abstract

Motivation: Sequencing of a bi-allelic PCR product, which contains an allele with a deletion/insertion mutation results in a superimposed tracefile following the site of this shift mutation. A trace file of this type hampers the use of current computer programs for base calling. ShiftDetector analyses a sequencing trace file in order to discover if it is a superimposed sequence of two molecules that differ in a shift mutation of 1 to 25 bases. The program calculates a probability score for the existence of such a shift and reconstructs the sequence of the original molecule.

Availability: ShiftDetector is available from http://cowry.agri.huji.ac.il

MeSH terms

  • Alleles
  • Base Sequence
  • DNA Mutational Analysis / methods*
  • Databases, Genetic
  • Gene Expression
  • Genetic Carrier Screening / methods*
  • Internet
  • Models, Statistical
  • Molecular Sequence Data
  • Mutagenesis, Insertional / methods*
  • National Library of Medicine (U.S.)
  • Polymerase Chain Reaction / methods*
  • Programming Languages
  • Sensitivity and Specificity
  • Software*
  • United States