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. 2021 Jan 8;49(D1):D1192-D1196.
doi: 10.1093/nar/gkaa959.

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

Belinda M Giardine  1 , Philippe Joly  2   3 , Serge Pissard  4 , Henri Wajcman  5 , David H K Chui  6 , Ross C Hardison  1   7 , George P Patrinos  8   9   10   11
Affiliations

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

Belinda M Giardine et al. Nucleic Acids Res. .

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.

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Figures

Figure 1.
Figure 1.
The new compound heterozygotes phenotype tool of HbVar. A user can select the desired columns for the table output display from a wide variety of options, according to the available HbVar data. The count of the number of rows that have data in each column is provided in brackets after each column name (A). Upon selection of the columns, a table is generated and the user can narrow down his search by selecting the data from the filters at the left side of the page (B).
Figure 2.
Figure 2.
The new SNP coordinate converter tool. This tool looks up SNPs based on their position in the DNA or protein that can be given using various numbering systems (see text). The result includes conversion of the position or range to other numbering systems in the list as well as checking HbVar and dbSNP for entries at this position or range, respectively. It also provides a link to a genome browser to view the position with other annotations.
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References

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