Genomics Inform.  2014 Dec;12(4):289-292. 10.5808/GI.2014.12.4.289.

MAP: Mutation Arranger for Defining Phenotype-Related Single-Nucleotide Variant

• Baek IP
• Jeong YB
• Jung SH
• Chung YJ

• KMID: 2391510
• DOI: http://doi.org/10.5808/GI.2014.12.4.289

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.

Keyword

cancer; mutation; next-generation sequencing (NGS); sequence snalysis; single-nucleotide variant (SNV); software

MeSH Terms

Cohort Studies
Humans
Phenotype