HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server

By Ross C. Hardison, D. Chui, Belinda Giardine, C. Riemer, George P. Patrinos, N. Anagnou, W. Miller, H. Wajcman. Human Mutation, 2002

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Predicting the effects of amino acid substitutions on protein function. (2006, background): “Popular nonneutral sets include data from laboratory mutagenesis experiments (36, 49, 54, 80), human disease proteins where many mutations have been characterized (3, 21, 22, 25, 32, 50, 55, 70), and human disease databases such as OMIM, HGMD, or SwissProt (1, 24, 62), which contain AASs that have b”
Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data (2011, unknown): “A second benchmark is gene-specific collections of mutations that associate with disease: for example, HBB variants that result in thalassaemia 98 (FIG.”
Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker (2008, methodology): “…Core BRCA2 database (BIC; http://research. nhgri.nih.gov/bic; version date: June 8, 2006), the PAH database [Scriver et al., 2000] (www.pahdb.mcgill.ca; version date: June 6, 2006), and the HbVar database [Hardison et al., 2002] (http:// globin.cse.psu.edu/hbvar; version date: June 6, 2006).”