Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for populations and sequence variation studies

George P. Patrinos, Belinda Giardine, Cathy Riemer, Webb Miller, David H.K. Chui, Nicholas P. Anagnou, Henri Wajcman, Ross Cameron Hardison

Research output: Contribution to journalArticle

278 Scopus citations

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, bio-chemical 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 β-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.

Original languageEnglish (US)
JournalNucleic acids research
Volume32
Issue numberDATABASE ISS.
StatePublished - Jan 1 2004

All Science Journal Classification (ASJC) codes

  • Genetics

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    Patrinos, G. P., Giardine, B., Riemer, C., Miller, W., Chui, D. H. K., Anagnou, N. P., Wajcman, H., & Hardison, R. C. (2004). Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for populations and sequence variation studies. Nucleic acids research, 32(DATABASE ISS.).