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MAP: Mutation Arranger for Defining Phenotype-Related Single-Nucleotide Variant
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  • MAP: Mutation Arranger for Defining Phenotype-Related Single-Nucleotide Variant
  • MAP: Mutation Arranger for Defining Phenotype-Related Single-Nucleotide Variant
저자명
Baek. In-Pyo,Jeong. Yong-Bok,Jung. Seung-Hyun,Chung. Yeun-Jun
간행물명
Genomics & informatics
권/호정보
2014년|12권 4호|pp.289-292 (4 pages)
발행정보
한국유전체학회
파일정보
정기간행물|ENG|
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이 논문은 한국과학기술정보연구원과 논문 연계를 통해 무료로 제공되는 원문입니다.
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기타언어초록

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.