Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations

Belinda M. Giardine, Philippe Joly, Serge Pissard, Henri Wajcman, David H. K Chui, Ross C. Hardison, George P. Patrinos

Research output: Contribution to journalArticlepeer-review

Abstract

HbVar (http://globin.bx.psu.edu/hbvar) is a widely-used locus-specific database (LSDB) launched 20 years ago by a multi-center academic effort to provide timely information on the numerous genomic variants leading to hemoglobin variants and all types of thalassemia and hemoglobinopathies. Here, we report several advances for the database. We made clinically relevant updates of HbVar, implemented as additional querying options in the HbVar query page, allowing the user to explore the clinical phenotype of compound heterozygous patients. We also made significant improvements to the HbVar front page, making comparative data querying, analysis and output more user-friendly. We continued to expand and enrich the regular data content, involving 1820 variants, 230 of which are new entries. We also increased the querying potential and expanded the usefulness of HbVar database in the clinical setting. These several additions, expansions and updates should improve the utility of HbVar both for the globin research community and in a clinical setting.

Original languageEnglish (US)
Pages (from-to)D1192-D1196
JournalNucleic acids research
Volume49
Issue numberD1
DOIs
StatePublished - Jan 8 2021

All Science Journal Classification (ASJC) codes

  • Genetics

Fingerprint Dive into the research topics of 'Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations'. Together they form a unique fingerprint.

Cite this