title: Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies.
abstract: HbVar (http://globin.cse.psu.edu/globin/hbvar/) is a relational database developed by a multi-center academic effort to provide up-to-date and high quality information on the genomic sequence changes leading to hemoglobin variants and all types of thalassemia and hemoglobinopathies. Extensive information is recorded for each variant and mutation, including sequence alterations, biochemical and hematological effects, associated pathology, ethnic occurrence and references. In addition to the regular updates to entries, we report two significant advances: (i) The frequencies for a large number of mutations causing beta-thalassemia in at-risk populations have been extracted from the published literature and made available for the user to query upon. (ii) HbVar has been linked with the GALA (Genome Alignment and Annotation database, available at http://globin.cse.psu.edu/gala/) so that users can combine information on hemoglobin variants and thalassemia mutations with a wide spectrum of genomic data. It also expands the capacity to view and analyze the data, using tools within GALA and the University of California at Santa Cruz (UCSC) Genome Browser.
authors.affiliation: MGC-Department of Cell Biology and Genetics, Erasmus MC, Faculty of Medicine and Health Sciences, PO Box 1738, 3000 DR, Rotterdam, The Netherlands. g.patrinos@erasmusmc.nl
authors.forename: George P
authors.initials: GP
authors.lastname: Patrinos
authors.forename: Belinda
authors.initials: B
authors.lastname: Giardine
authors.forename: Cathy
authors.initials: C
authors.lastname: Riemer
authors.forename: Webb
authors.initials: W
authors.lastname: Miller
authors.forename: David H K
authors.initials: DH
authors.lastname: Chui
authors.forename: Nicholas P
authors.initials: NP
authors.lastname: Anagnou
authors.forename: Henri
authors.initials: H
authors.lastname: Wajcman
authors.forename: Ross C
authors.initials: RC
authors.lastname: Hardison
mesh_terms: D030541:Databases, Genetic; D005787:Gene Frequency; D014644:Genetic Variation / Q000235:genetics*; D005826:Genetics, Medical; D005828:Genetics, Population; D015894:Genome, Human; D023281:Genomics; D006454:Hemoglobins / Q000235:genetics*; D006801:Humans; D016247:Information Storage and Retrieval; D020407:Internet; D009154:Mutation / Q000235:genetics*; D044469:Racial Groups / Q000235:genetics; D013789:Thalassemia / Q000235:genetics*
chemical_list: D006454:Hemoglobins