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DC Field | Value | Language |
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dc.contributor.author | Giardine, Belinda | - |
dc.contributor.author | Borg, Joseph J. | - |
dc.contributor.author | Viennas, Emmanouil | - |
dc.contributor.author | Pavlidis, Cristiana | - |
dc.contributor.author | Moradkhani, Kamran | - |
dc.contributor.author | Joly, Philippe | - |
dc.contributor.author | Bartsakoulia, Marina | - |
dc.contributor.author | Riemer, Cathy | - |
dc.contributor.author | Miller, Webb | - |
dc.contributor.author | Tzimas, Gianni | - |
dc.contributor.author | Wajcman, Henri | - |
dc.contributor.author | Hardison, Ross C. | - |
dc.contributor.author | Patrinos, George P. | - |
dc.date.accessioned | 2022-07-11T09:28:29Z | - |
dc.date.available | 2022-07-11T09:28:29Z | - |
dc.date.issued | 2014 | - |
dc.identifier.citation | Giardine, B., Borg, J., Viennas, E., Pavlidis, C., Moradkhani, K., Joly, P., ... & Patrinos, G. P. (2014). Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Research, 42(D1), D1063-D1069. | en_GB |
dc.identifier.uri | https://www.um.edu.mt/library/oar/handle/123456789/99068 | - |
dc.description.abstract | 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. | en_GB |
dc.language.iso | en | en_GB |
dc.publisher | Oxford University Press | en_GB |
dc.rights | info:eu-repo/semantics/openAccess | en_GB |
dc.subject | Databases | en_GB |
dc.subject | Hemoglobin polymorphisms | en_GB |
dc.subject | Thalassemia -- Diagnosis | en_GB |
dc.title | Updates of the HbVar database of human hemoglobin variants and thalassemia mutations | en_GB |
dc.type | article | en_GB |
dc.rights.holder | The copyright of this work belongs to the author(s)/publisher. The rights of this work are as defined by the appropriate Copyright Legislation or as modified by any successive legislation. Users may access this work and can make use of the information contained in accordance with the Copyright Legislation provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder | en_GB |
dc.description.reviewed | peer-reviewed | en_GB |
dc.identifier.doi | 10.1093/nar/gkt911 | - |
dc.publication.title | Nucleic Acids Research | en_GB |
Appears in Collections: | Scholarly Works - FacHScABS |
Files in This Item:
File | Description | Size | Format | |
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Updates_of_the_HbVar_database_of_human_hemoglobin_variants_and_thalassemia_mutations.pdf | 5.56 MB | Adobe PDF | View/Open |
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