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Updates of the HbVar database of human hemoglobin variants and thalassemia mutations
HbVar (http://globin.bx.psu.edu/hbvar) is one of the oldest and most appreciated locus-specific databases launched in 2001 by a multi-center academic effort to provide timely information on the genomic alterations leading to hemoglobin variants and all types of thalassemia and hemoglobinopathies. Da...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3964999/ https://www.ncbi.nlm.nih.gov/pubmed/24137000 http://dx.doi.org/10.1093/nar/gkt911 |
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author | Giardine, Belinda Borg, Joseph Viennas, Emmanouil Pavlidis, Cristiana Moradkhani, Kamran Joly, Philippe Bartsakoulia, Marina Riemer, Cathy Miller, Webb Tzimas, Giannis Wajcman, Henri Hardison, Ross C. Patrinos, George P. |
author_facet | Giardine, Belinda Borg, Joseph Viennas, Emmanouil Pavlidis, Cristiana Moradkhani, Kamran Joly, Philippe Bartsakoulia, Marina Riemer, Cathy Miller, Webb Tzimas, Giannis Wajcman, Henri Hardison, Ross C. Patrinos, George P. |
author_sort | Giardine, Belinda |
collection | PubMed |
description | HbVar (http://globin.bx.psu.edu/hbvar) is one of the oldest and most appreciated locus-specific databases launched in 2001 by a multi-center academic effort to provide timely information on the genomic alterations leading to hemoglobin variants and all types of thalassemia and hemoglobinopathies. Database records include extensive phenotypic descriptions, biochemical and hematological effects, associated pathology and ethnic occurrence, accompanied by mutation frequencies and references. Here, we report updates to >600 HbVar entries, inclusion of population-specific data for 28 populations and 27 ethnic groups for α-, and β-thalassemias and additional querying options in the HbVar query page. HbVar content was also inter-connected with two other established genetic databases, namely FINDbase (http://www.findbase.org) and Leiden Open-Access Variation database (http://www.lovd.nl), which allows comparative data querying and analysis. HbVar data content has contributed to the realization of two collaborative projects to identify genomic variants that lie on different globin paralogs. Most importantly, HbVar data content has contributed to demonstrate the microattribution concept in practice. These updates significantly enriched the database content and querying potential, enhanced the database profile and data quality and broadened the inter-relation of HbVar with other databases, which should increase the already high impact of this resource to the globin and genetic database community. |
format | Online Article Text |
id | pubmed-3964999 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-39649992014-03-25 Updates of the HbVar database of human hemoglobin variants and thalassemia mutations Giardine, Belinda Borg, Joseph Viennas, Emmanouil Pavlidis, Cristiana Moradkhani, Kamran Joly, Philippe Bartsakoulia, Marina Riemer, Cathy Miller, Webb Tzimas, Giannis Wajcman, Henri Hardison, Ross C. Patrinos, George P. Nucleic Acids Res VI. Genomic variation, diseases and drugs HbVar (http://globin.bx.psu.edu/hbvar) is one of the oldest and most appreciated locus-specific databases launched in 2001 by a multi-center academic effort to provide timely information on the genomic alterations leading to hemoglobin variants and all types of thalassemia and hemoglobinopathies. Database records include extensive phenotypic descriptions, biochemical and hematological effects, associated pathology and ethnic occurrence, accompanied by mutation frequencies and references. Here, we report updates to >600 HbVar entries, inclusion of population-specific data for 28 populations and 27 ethnic groups for α-, and β-thalassemias and additional querying options in the HbVar query page. HbVar content was also inter-connected with two other established genetic databases, namely FINDbase (http://www.findbase.org) and Leiden Open-Access Variation database (http://www.lovd.nl), which allows comparative data querying and analysis. HbVar data content has contributed to the realization of two collaborative projects to identify genomic variants that lie on different globin paralogs. Most importantly, HbVar data content has contributed to demonstrate the microattribution concept in practice. These updates significantly enriched the database content and querying potential, enhanced the database profile and data quality and broadened the inter-relation of HbVar with other databases, which should increase the already high impact of this resource to the globin and genetic database community. Oxford University Press 2014-01-01 2013-10-09 /pmc/articles/PMC3964999/ /pubmed/24137000 http://dx.doi.org/10.1093/nar/gkt911 Text en © The Author(s) 2013. Published by Oxford University Press. http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/), which permits non-commercial reuse, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com |
spellingShingle | VI. Genomic variation, diseases and drugs Giardine, Belinda Borg, Joseph Viennas, Emmanouil Pavlidis, Cristiana Moradkhani, Kamran Joly, Philippe Bartsakoulia, Marina Riemer, Cathy Miller, Webb Tzimas, Giannis Wajcman, Henri Hardison, Ross C. Patrinos, George P. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations |
title | Updates of the HbVar database of human hemoglobin variants and thalassemia mutations |
title_full | Updates of the HbVar database of human hemoglobin variants and thalassemia mutations |
title_fullStr | Updates of the HbVar database of human hemoglobin variants and thalassemia mutations |
title_full_unstemmed | Updates of the HbVar database of human hemoglobin variants and thalassemia mutations |
title_short | Updates of the HbVar database of human hemoglobin variants and thalassemia mutations |
title_sort | updates of the hbvar database of human hemoglobin variants and thalassemia mutations |
topic | VI. Genomic variation, diseases and drugs |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3964999/ https://www.ncbi.nlm.nih.gov/pubmed/24137000 http://dx.doi.org/10.1093/nar/gkt911 |
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