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HGCS: an online tool for prioritizing disease-causing gene variants by biological distance

BACKGROUND: Identifying the genotypes underlying human disease phenotypes is a fundamental step in human genetics and medicine. High-throughput genomic technologies provide thousands of genetic variants per individual. The causal genes of a specific phenotype are usually expected to be functionally...

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Autores principales: Itan, Yuval, Mazel, Mark, Mazel, Benjamin, Abhyankar, Avinash, Nitschke, Patrick, Quintana-Murci, Lluis, Boisson-Dupuis, Stephanie, Boisson, Bertrand, Abel, Laurent, Zhang, Shen-Ying, Casanova, Jean-Laurent
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4051124/
https://www.ncbi.nlm.nih.gov/pubmed/24694260
http://dx.doi.org/10.1186/1471-2164-15-256
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author Itan, Yuval
Mazel, Mark
Mazel, Benjamin
Abhyankar, Avinash
Nitschke, Patrick
Quintana-Murci, Lluis
Boisson-Dupuis, Stephanie
Boisson, Bertrand
Abel, Laurent
Zhang, Shen-Ying
Casanova, Jean-Laurent
author_facet Itan, Yuval
Mazel, Mark
Mazel, Benjamin
Abhyankar, Avinash
Nitschke, Patrick
Quintana-Murci, Lluis
Boisson-Dupuis, Stephanie
Boisson, Bertrand
Abel, Laurent
Zhang, Shen-Ying
Casanova, Jean-Laurent
author_sort Itan, Yuval
collection PubMed
description BACKGROUND: Identifying the genotypes underlying human disease phenotypes is a fundamental step in human genetics and medicine. High-throughput genomic technologies provide thousands of genetic variants per individual. The causal genes of a specific phenotype are usually expected to be functionally close to each other. According to this hypothesis, candidate genes are picked from high-throughput data on the basis of their biological proximity to core genes — genes already known to be responsible for the phenotype. There is currently no effective gene-centric online interface for this purpose. RESULTS: We describe here the human gene connectome server (HGCS), a powerful, easy-to-use interactive online tool enabling researchers to prioritize any list of genes according to their biological proximity to core genes associated with the phenotype of interest. We also make available an updated and extended version for all human gene-specific connectomes. The HGCS is freely available to noncommercial users from: http://hgc.rockefeller.edu/. CONCLUSIONS: The HGCS should help investigators from diverse fields to identify new disease-causing candidate genes more effectively, via a user-friendly online interface.
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spelling pubmed-40511242014-06-17 HGCS: an online tool for prioritizing disease-causing gene variants by biological distance Itan, Yuval Mazel, Mark Mazel, Benjamin Abhyankar, Avinash Nitschke, Patrick Quintana-Murci, Lluis Boisson-Dupuis, Stephanie Boisson, Bertrand Abel, Laurent Zhang, Shen-Ying Casanova, Jean-Laurent BMC Genomics Software BACKGROUND: Identifying the genotypes underlying human disease phenotypes is a fundamental step in human genetics and medicine. High-throughput genomic technologies provide thousands of genetic variants per individual. The causal genes of a specific phenotype are usually expected to be functionally close to each other. According to this hypothesis, candidate genes are picked from high-throughput data on the basis of their biological proximity to core genes — genes already known to be responsible for the phenotype. There is currently no effective gene-centric online interface for this purpose. RESULTS: We describe here the human gene connectome server (HGCS), a powerful, easy-to-use interactive online tool enabling researchers to prioritize any list of genes according to their biological proximity to core genes associated with the phenotype of interest. We also make available an updated and extended version for all human gene-specific connectomes. The HGCS is freely available to noncommercial users from: http://hgc.rockefeller.edu/. CONCLUSIONS: The HGCS should help investigators from diverse fields to identify new disease-causing candidate genes more effectively, via a user-friendly online interface. BioMed Central 2014-04-03 /pmc/articles/PMC4051124/ /pubmed/24694260 http://dx.doi.org/10.1186/1471-2164-15-256 Text en Copyright © 2014 Itan 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 credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Software
Itan, Yuval
Mazel, Mark
Mazel, Benjamin
Abhyankar, Avinash
Nitschke, Patrick
Quintana-Murci, Lluis
Boisson-Dupuis, Stephanie
Boisson, Bertrand
Abel, Laurent
Zhang, Shen-Ying
Casanova, Jean-Laurent
HGCS: an online tool for prioritizing disease-causing gene variants by biological distance
title HGCS: an online tool for prioritizing disease-causing gene variants by biological distance
title_full HGCS: an online tool for prioritizing disease-causing gene variants by biological distance
title_fullStr HGCS: an online tool for prioritizing disease-causing gene variants by biological distance
title_full_unstemmed HGCS: an online tool for prioritizing disease-causing gene variants by biological distance
title_short HGCS: an online tool for prioritizing disease-causing gene variants by biological distance
title_sort hgcs: an online tool for prioritizing disease-causing gene variants by biological distance
topic Software
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4051124/
https://www.ncbi.nlm.nih.gov/pubmed/24694260
http://dx.doi.org/10.1186/1471-2164-15-256
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