Genomics & Informatics

Korea Genome Organization (한국유전체학회)
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MAP: Mutation Arranger for Defining Phenotype-Related Single-Nucleotide Variant

  • Baek, In-Pyo (Department of Microbiology, Integrated Research Center for Genome Polymorphism (IRCGP), The Catholic University of Korea College of Medicine) ;
  • Jeong, Yong-Bok (Quantum Technology) ;
  • Jung, Seung-Hyun (Department of Microbiology, Integrated Research Center for Genome Polymorphism (IRCGP), The Catholic University of Korea College of Medicine) ;
  • Chung, Yeun-Jun (Department of Microbiology, Integrated Research Center for Genome Polymorphism (IRCGP), The Catholic University of Korea College of Medicine)
  • Received : 2014.10.16
  • Accepted : 2014.11.20
  • Published : 2014.12.31
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Abstract

Next-generation sequencing (NGS) is widely used to identify the causative mutations underlying diverse human diseases, including cancers, which can be useful for discovering the diagnostic and therapeutic targets. Currently, a number of single-nucleotide variant (SNV)-calling algorithms are available; however, there is no tool for visualizing the recurrent and phenotype-specific mutations for general researchers. In this study, in order to support defining the recurrent mutations or phenotype-specific mutations from NGS data of a group of cancers with diverse phenotypes, we aimed to develop a user-friendly tool, named mutation arranger for defining phenotype-related SNV (MAP). MAP is a user-friendly program with multiple functions that supports the determination of recurrent or phenotype-specific mutations and provides graphic illustration images to the users. Its operation environment, the Microsoft Windows environment, enables more researchers who cannot operate Linux to define clinically meaningful mutations with NGS data from cancer cohorts.

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References

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