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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Korea Genome Organization
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4330268/ https://www.ncbi.nlm.nih.gov/pubmed/25705172 http://dx.doi.org/10.5808/GI.2014.12.4.289 |
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author | Baek, In-Pyo Jeong, Yong-Bok Jung, Seung-Hyun Chung, Yeun-Jun |
author_facet | Baek, In-Pyo Jeong, Yong-Bok Jung, Seung-Hyun Chung, Yeun-Jun |
author_sort | Baek, In-Pyo |
collection | PubMed |
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 | Online Article Text |
id | pubmed-4330268 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Korea Genome Organization |
record_format | MEDLINE/PubMed |
spelling | pubmed-43302682015-02-22 MAP: Mutation Arranger for Defining Phenotype-Related Single-Nucleotide Variant Baek, In-Pyo Jeong, Yong-Bok Jung, Seung-Hyun Chung, Yeun-Jun Genomics Inform Application Note 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. Korea Genome Organization 2014-12 2014-12-31 /pmc/articles/PMC4330268/ /pubmed/25705172 http://dx.doi.org/10.5808/GI.2014.12.4.289 Text en Copyright © 2014 by the Korea Genome Organization http://creativecommons.org/licenses/by-nc/3.0/ It is identical to the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/). |
spellingShingle | Application Note Baek, In-Pyo Jeong, Yong-Bok Jung, Seung-Hyun Chung, Yeun-Jun MAP: Mutation Arranger for Defining Phenotype-Related Single-Nucleotide Variant |
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 | Application Note |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4330268/ https://www.ncbi.nlm.nih.gov/pubmed/25705172 http://dx.doi.org/10.5808/GI.2014.12.4.289 |
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