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Genetic region characterization (Gene RECQuest) - software to assist in identification and selection of candidate genes from genomic regions

BACKGROUND: The availability of research platforms like the web tools of the National Center for Biotechnology Information (NCBI) has transformed the time-consuming task of identifying candidate genes from genetic studies to an interactive process where data from a variety of sources are obtained to...

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Autores principales: Sadasivam, Rajani S, Sundar, Gayathri, Vaughan, Laura K, Tanik, Murat M, Arnett, Donna K
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2760569/
https://www.ncbi.nlm.nih.gov/pubmed/19793396
http://dx.doi.org/10.1186/1756-0500-2-201
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author Sadasivam, Rajani S
Sundar, Gayathri
Vaughan, Laura K
Tanik, Murat M
Arnett, Donna K
author_facet Sadasivam, Rajani S
Sundar, Gayathri
Vaughan, Laura K
Tanik, Murat M
Arnett, Donna K
author_sort Sadasivam, Rajani S
collection PubMed
description BACKGROUND: The availability of research platforms like the web tools of the National Center for Biotechnology Information (NCBI) has transformed the time-consuming task of identifying candidate genes from genetic studies to an interactive process where data from a variety of sources are obtained to select likely genes for follow-up. This process presents its own set of challenges, as the genetic researcher has to interact with several tools in a time-intensive, manual, and cumbersome manner. We developed a method and implemented an effective software system to address these challenges by multidisciplinary efforts of professional software developers with domain experts. The method presented in this paper, Gene RECQuest, simplifies the interaction with existing research platforms through the use of advanced integration technologies. FINDINGS: Gene RECQuest is a web-based application that assists in the identification of candidate genes from linkage and association studies using information from Online Mendelian Inheritance in Man (OMIM) and PubMed. To illustrate the utility of Gene RECQuest we used it to identify genes physically located within a linkage region as potential candidate genes for a quantitative trait locus (QTL) for very low density lipoprotein (VLDL) response on chromosome 18. CONCLUSION: Gene RECQuest provides a tool which enables researchers to easily identify and organize literature supporting their own expertise and make informed decisions. It is important to note that Gene RECQuest is a data acquisition and organization software, and not a data analysis method.
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spelling pubmed-27605692009-10-13 Genetic region characterization (Gene RECQuest) - software to assist in identification and selection of candidate genes from genomic regions Sadasivam, Rajani S Sundar, Gayathri Vaughan, Laura K Tanik, Murat M Arnett, Donna K BMC Res Notes Short Report BACKGROUND: The availability of research platforms like the web tools of the National Center for Biotechnology Information (NCBI) has transformed the time-consuming task of identifying candidate genes from genetic studies to an interactive process where data from a variety of sources are obtained to select likely genes for follow-up. This process presents its own set of challenges, as the genetic researcher has to interact with several tools in a time-intensive, manual, and cumbersome manner. We developed a method and implemented an effective software system to address these challenges by multidisciplinary efforts of professional software developers with domain experts. The method presented in this paper, Gene RECQuest, simplifies the interaction with existing research platforms through the use of advanced integration technologies. FINDINGS: Gene RECQuest is a web-based application that assists in the identification of candidate genes from linkage and association studies using information from Online Mendelian Inheritance in Man (OMIM) and PubMed. To illustrate the utility of Gene RECQuest we used it to identify genes physically located within a linkage region as potential candidate genes for a quantitative trait locus (QTL) for very low density lipoprotein (VLDL) response on chromosome 18. CONCLUSION: Gene RECQuest provides a tool which enables researchers to easily identify and organize literature supporting their own expertise and make informed decisions. It is important to note that Gene RECQuest is a data acquisition and organization software, and not a data analysis method. BioMed Central 2009-09-30 /pmc/articles/PMC2760569/ /pubmed/19793396 http://dx.doi.org/10.1186/1756-0500-2-201 Text en Copyright © 2009 Sadasivam et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Short Report
Sadasivam, Rajani S
Sundar, Gayathri
Vaughan, Laura K
Tanik, Murat M
Arnett, Donna K
Genetic region characterization (Gene RECQuest) - software to assist in identification and selection of candidate genes from genomic regions
title Genetic region characterization (Gene RECQuest) - software to assist in identification and selection of candidate genes from genomic regions
title_full Genetic region characterization (Gene RECQuest) - software to assist in identification and selection of candidate genes from genomic regions
title_fullStr Genetic region characterization (Gene RECQuest) - software to assist in identification and selection of candidate genes from genomic regions
title_full_unstemmed Genetic region characterization (Gene RECQuest) - software to assist in identification and selection of candidate genes from genomic regions
title_short Genetic region characterization (Gene RECQuest) - software to assist in identification and selection of candidate genes from genomic regions
title_sort genetic region characterization (gene recquest) - software to assist in identification and selection of candidate genes from genomic regions
topic Short Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2760569/
https://www.ncbi.nlm.nih.gov/pubmed/19793396
http://dx.doi.org/10.1186/1756-0500-2-201
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