The DOI matches its Crossref record; 14 of the 14 references it cites were found in a registry or an index.
Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies
Open accessAbstract
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.
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Cites
The UCSC Genome Browser Database
Karolchik, D. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg129 · Cited by 1,887
A vision for the future of genomics research
Collins, F. S., Green, E. D., Guttmacher, A. E., Guyer, M. S., & on behalf of the US National Human Genome Research Institute (2003) · Nature · doi:10.1038/nature01626 · Cited by 1,752
Human–Mouse Alignments with BLASTZ
Schwartz, S., Kent, W. J., Smit, A., Zhang, Z., Baertsch, R., Hardison, R. C., Haussler, D., & Miller, W. (2003) · Genome Research · doi:10.1101/gr.809403 · Cited by 1,239
Database resources of the National Center for Biotechnology
Wheeler, D. L. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg033 · Cited by 1,109
The Molecular Basis of Blood Diseases.
(1987) · Annals of Internal Medicine · doi:10.7326/0003-4819-107-6-950_3 · Cited by 632
Hardison, R. C., Chui, D. H. K., Giardine, B., Riemer, C., Patrinos, G. P., Anagnou, N., Miller, W., & Wajcman, H. (2002) · Human Mutation · doi:10.1002/humu.10044 · Cited by 439
Self-citationDisorders of hemoglobin genetics, pathophysiology, and clinical management
Steinberg, M. H. (2001) · Cited by 438
Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management
Somervaille, T. (2001) · Journal of the Royal Society of Medicine · doi:10.1177/014107680109401119 · Cited by 432
Ensembl 2002: accommodating comparative genomics
Clamp, M. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg083 · Cited by 242
MultiPipMaker and supporting tools: alignments and analysis of multiple genomic DNA sequences
Schwartz, S. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg579 · Cited by 236
Cited by
Harteveld, C. L., & Higgs, D. R. (2010) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-5-13 · Cited by 508
IthaGenes: An Interactive Database for Haemoglobin Variations and Epidemiology
Kountouris, P., Lederer, C. W., Fanis, P., Feleki, X., Old, J., & Kleanthous, M. (2014) · PLoS ONE · doi:10.1371/journal.pone.0103020 · Cited by 270
Henderson, S. J., Timbs, A. T., McCarthy, J., Gallienne, A. E., Proven, M., Rugless, M. J., Lopez, H., Eglinton, J., Dziedzic, D., Beardsall, M., et al. (2016) · Hemoglobin · doi:10.3109/03630269.2015.1113990 · Cited by 51
Metadata
- Authors
- Patrinos, G. P.
- Venue
- Nucleic Acids Research
- Publisher
- Oxford University Press (OUP)
- Published
- 2004-01-01
- Volume
- 32
- Issue
- 90001
- Pages
- 537D-541
- ISSN
- 0305-1048 (ISSN-L)
- 1362-4962
- OpenAlex
- W2163348221
- Cited by
- 377
- References
- 14
- FWCI
- 3.29
- Type
- journal article
- Language
- en
- Open access
- bronze
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