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Japan Bioinformatics Announces Study on Leading Mapping Tools for DNA Mutation Discovery
Date:12/4/2012

Tokyo, Japan (PRWEB) December 03, 2012

Japan Bioinformatics, today announced results of a study on the impact three popular mapping tools have on the results of SNP discovery experiments and the analysis of sequence data.

Mutation discovery, especially discovery of single nucleotide polymorphisms (SNPs) is an extremely popular analysis of sequence data in many types of research, including cancer. The data from Next Generation Sequencing (NGS) devices provides a very cost-effective and convenient source of information. Additionally, the proliferation of NGS-focused data analysis tools makes this type of research easily accessible to individual researchers.

Japan Bioinformatics recently published a study, which utilizes Simbiot®, a cloud-based next generation sequencing data analysis tool, to explore the impact three popular mapping tools have on the results of SNP discovery experiments.

Bowtie, Bowtie2 and BWA mapping tools were tested using data from a human cancer panel, a human exome and Caenhorhabditis elegans whole genome. In all three cases, the results were consistent:

  • Bowtie detected the smallest number of SNPs and almost no insertions or deletions (INDELs)
  • Bowtie2 and BWA were able to detect a similar number of mutations
  • There were significant discrepancies between the SNPs detected using Bowtie2 and those detected using BWA
  • The results of INDEL analysis in the human exome data set show that 67% of the filtered, high quality INDELs were common between mutations detected using Bowtie2 and those detected using BWA genome aligners.

For the complete results of the analysis, download the white paper,

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