MAP: Mutation Arranger for Defining Phenotype-Related Single-Nucleotide Variant
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 availabl...
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| Format: | Article |
| Language: | English |
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BioMed Central
2014-12-01
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| Series: | Genomics & Informatics |
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| Online Access: | http://genominfo.org/upload/pdf/gni-12-289.pdf |
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| author | In-Pyo Baek Yong-Bok Jeong Seung-Hyun Jung Yeun-Jun Chung |
| author_facet | In-Pyo Baek Yong-Bok Jeong Seung-Hyun Jung Yeun-Jun Chung |
| author_sort | In-Pyo Baek |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-623b63ddc9404318a2cfd0f2fb529355 |
| institution | Kabale University |
| issn | 1598-866X 2234-0742 |
| language | English |
| publishDate | 2014-12-01 |
| publisher | BioMed Central |
| record_format | Article |
| series | Genomics & Informatics |
| spelling | doaj-art-623b63ddc9404318a2cfd0f2fb5293552025-02-02T02:20:24ZengBioMed CentralGenomics & Informatics1598-866X2234-07422014-12-0112428929210.5808/GI.2014.12.4.289122MAP: Mutation Arranger for Defining Phenotype-Related Single-Nucleotide VariantIn-Pyo Baek0Yong-Bok Jeong1Seung-Hyun Jung2Yeun-Jun Chung3Department of Microbiology, Integrated Research Center for Genome Polymorphism (IRCGP), The Catholic University of Korea College of Medicine, Seoul 137-701, Korea.Quantum Technology, Seongnam 462-807, Korea.Department of Microbiology, Integrated Research Center for Genome Polymorphism (IRCGP), The Catholic University of Korea College of Medicine, Seoul 137-701, Korea.Department of Microbiology, Integrated Research Center for Genome Polymorphism (IRCGP), The Catholic University of Korea College of Medicine, Seoul 137-701, Korea.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.http://genominfo.org/upload/pdf/gni-12-289.pdfcancermutationnext-generation sequencing (NGS)sequence snalysissingle-nucleotide variant (SNV)software |
| spellingShingle | In-Pyo Baek Yong-Bok Jeong Seung-Hyun Jung Yeun-Jun Chung MAP: Mutation Arranger for Defining Phenotype-Related Single-Nucleotide Variant Genomics & Informatics cancer mutation next-generation sequencing (NGS) sequence snalysis single-nucleotide variant (SNV) software |
| title | MAP: Mutation Arranger for Defining Phenotype-Related Single-Nucleotide Variant |
| title_full | MAP: Mutation Arranger for Defining Phenotype-Related Single-Nucleotide Variant |
| title_fullStr | MAP: Mutation Arranger for Defining Phenotype-Related Single-Nucleotide Variant |
| title_full_unstemmed | MAP: Mutation Arranger for Defining Phenotype-Related Single-Nucleotide Variant |
| title_short | MAP: Mutation Arranger for Defining Phenotype-Related Single-Nucleotide Variant |
| title_sort | map mutation arranger for defining phenotype related single nucleotide variant |
| topic | cancer mutation next-generation sequencing (NGS) sequence snalysis single-nucleotide variant (SNV) software |
| url | http://genominfo.org/upload/pdf/gni-12-289.pdf |
| work_keys_str_mv | AT inpyobaek mapmutationarrangerfordefiningphenotyperelatedsinglenucleotidevariant AT yongbokjeong mapmutationarrangerfordefiningphenotyperelatedsinglenucleotidevariant AT seunghyunjung mapmutationarrangerfordefiningphenotyperelatedsinglenucleotidevariant AT yeunjunchung mapmutationarrangerfordefiningphenotyperelatedsinglenucleotidevariant |