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HbVar specifications

Information


Unique identifier OMICS_21108
Name HbVar
Alternative name Human Hemoglobin Variants and Thalassemias
Restrictions to use None
Database management system Oracle
Community driven No
Data access Browse
User data submission Allowed
Maintained Yes

Additional information


http://globin.bx.psu.edu/hbvar/faq.html

Publications for Human Hemoglobin Variants and Thalassemias

HbVar citations

 (5)
library_books

Impact of annotation error in α globin genes on molecular diagnosis

2017
PLoS One
PMCID: 5648127
PMID: 29049312
DOI: 10.1371/journal.pone.0185270

[…] e with the HBA2:c.95+2_95+6delTGAGG or IVS I-1 (-5 bp) variant was analysed using various tools. The output of the analysis of the 5bp deletion (HBA2:c.95+2_95+6delTGAGG), which was reported already (HbVar ID 1065) [,] revealed three different names with various tools (). The 5bp deletion (HBA2:c.95+2_95+6delTGAGG), was identified as HBA2:c.95_95+4delGGTGA using Variobox v.1.4.6 (). The analysis r […]

library_books

Rapid detection of pathological mutations and deletions of the haemoglobin beta gene (HBB) by High Resolution Melting (HRM) analysis and Gene Ratio Analysis Copy Enumeration PCR (GRACE PCR)

2016
BMC Med Genet
PMCID: 5070150
PMID: 27756326
DOI: 10.1186/s12881-016-0334-y

[…] Analysis of the HbVar online database (http://globin.bx.psu.edu/hbvar/menu.html) was performed to identify the regions of the HBB gene of potential clinical relevance and to identify the breakpoints for known gene de […]

library_books

Rapid and reliable detection of α globin copy number variations by quantitative real time PCR

2014
PMCID: 3904007
PMID: 24456650
DOI: 10.1186/2052-1839-14-4

[…] We used the HbVar track in the UCSC Genome Browser [,] to design four specific pairs of primers and fluorescent hydrolysis probes that would potentially detect all published large deletions in the α-globin gene c […]

library_books

The 2014 Nucleic Acids Research Database Issue and an updated NAR online Molecular Biology Database Collection

2013
Nucleic Acids Res
PMCID: 3965027
PMID: 24316579
DOI: 10.1093/nar/gkt1282

[…] ls and copy-number variants; and the Database of Genomic Variants (DGV) at the Toronto’s Centre for Applied Genomics (). There are also several more specialized databases (canSAR, DriverDB, FINDBase, HbVar, Lynx, NECTAR, Progenetix) that cover genetic defects leading to various human diseases, including cancer. In addition, three separate databases, Selectome, dbPSHP and 1000 Genomes Selection Bro […]

library_books

Cataloging Coding Sequence Variations in Human Genome Databases

2008
PLoS One
PMCID: 2570488
PMID: 18974781
DOI: 10.1371/journal.pone.0003575

[…] nsufficient prediction rate will be overcome as more information is available . It might be helpful to utilize a number of locus-specific mutation databases for specific diseases or genes such as the HbVar database for human hemoglobin variations and thalassemia mutations, and the IDR database for immunodeficiency mutations.Lastly, we could significantly increase the prediction power by combinin […]

Citations

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HbVar institution(s)
The Pennsylvania State University, Center for Comparative Genomics and Bioinformatics, University Park, PA, USA; Department of Applied Biomedical Science, Faculty of Health Sciences, University of Malta, Msida, Malta; MGC-Department of Cell Biology and Genetics, Erasmus MC, Faculty of Medicine and Health Sciences, Rotterdam, The Netherlands; Department of Computer Engineering and Informatics, University of Patras, Faculty of Engineering, Patras, Greece; Department of Pharmacy, University of Patras, School of Health Sciences, Patras, Greece; Department of Medical Genetics, Laboratory of Cytogenetics, Institute of Biology, Nantes, France; Hôpital Edouard Herriot, Unité de Pathologie Moléculaire du Globule Rouge, Lyon, France; Department of Computer and Informatics Engineering, Technological Educational Institute of Western Greece, Patras, Greece; INSERM U955, CHU Henri Mondor, Creteil, France; Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA
HbVar funding source(s)
Supported by United States Public Health Service grants [HG02238 and DK065806]; European Commission grants [ITHANET 026539, GEN2PHEN 200754]; Tobacco Settlement Funds of the Commonwealth of Pennsylvania; and the Huck Institute of the Life Sciences at Penn State University and the Golden Helix Foundation (London, UK).

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