title: Updates of the HbVar database of human hemoglobin variants and thalassemia mutations.
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.
authors.affiliation: 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 and Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA.
authors.forename: Belinda
authors.initials: B
authors.lastname: Giardine
authors.forename: Joseph
authors.initials: J
authors.lastname: Borg
authors.forename: Emmanouil
authors.initials: E
authors.lastname: Viennas
authors.forename: Cristiana
authors.initials: C
authors.lastname: Pavlidis
authors.forename: Kamran
authors.initials: K
authors.lastname: Moradkhani
authors.forename: Philippe
authors.initials: P
authors.lastname: Joly
authors.forename: Marina
authors.initials: M
authors.lastname: Bartsakoulia
authors.forename: Cathy
authors.initials: C
authors.lastname: Riemer
authors.forename: Webb
authors.initials: W
authors.lastname: Miller
authors.forename: Giannis
authors.initials: G
authors.lastname: Tzimas
authors.forename: Henri
authors.initials: H
authors.lastname: Wajcman
authors.forename: Ross C
authors.initials: RC
authors.lastname: Hardison
authors.forename: George P
authors.initials: GP
authors.lastname: Patrinos
mesh_terms: D030561:Databases, Nucleic Acid; D014644:Genetic Variation; D005838:Genotype; D006454:Hemoglobins / Q000235:genetics*; D006801:Humans; D020407:Internet; D009154:Mutation; D010641:Phenotype; D013789:Thalassemia / Q000208:ethnology / Q000235:genetics*
chemical_list: D006454:Hemoglobins