TY - JOUR
T1 - Updates of the HbVar database of human hemoglobin variants and thalassemia mutations
AU - Giardine, Belinda
AU - Borg, Joseph
AU - Viennas, Emmanouil
AU - Pavlidis, Cristiana
AU - Moradkhani, Kamran
AU - Joly, Philippe
AU - Bartsakoulia, Marina
AU - Riemer, Cathy
AU - Miller, Webb
AU - Tzimas, Giannis
AU - Wajcman, Henri
AU - Hardison, Ross C.
AU - Patrinos, George P.
N1 - Funding Information:
United States Public Health Service grants [HG02238 to W.M. and DK065806 to R.C.H.]; European Commission grants [ITHANET 026539, GEN2PHEN 200754 to G.P.P.] and financial support from Tobacco Settlement Funds of the Commonwealth of Pennsylvania, the Huck Institute of the Life Sciences at Penn State University and the Golden Helix Foundation (London, UK). Funding for open access charge: Penn State University, Philadelphia, PA, USA.
PY - 2014/1/1
Y1 - 2014/1/1
N2 - 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.
AB - 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.
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U2 - 10.1093/nar/gkt911
DO - 10.1093/nar/gkt911
M3 - Article
C2 - 24137000
AN - SCOPUS:84891800625
SN - 0305-1048
VL - 42
SP - D1063-D1069
JO - Nucleic acids research
JF - Nucleic acids research
IS - D1
ER -