The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)
Abstract
OMIM's task of cataloging the association between human phenotypes and their causative genes (the Morbid Map of the Genome) and classifying and naming newly recognized disorders is growing rapidly. Establishing the relationship between genotype and phenotype has become increasingly complex. New technologies such as genome-wide association studies (GWAS) and array comparative genomic hybridization (aCGH) define "risk alleles" that are inherently prone to substantial interpretation and modification. In addition, whole exome and genome sequencing are expected to result in many reports of new mendelian disorders and their causative genes. In preparation for the onslaught of new information, we have launched a new Website to allow a more comprehensive and structured view of the contents of OMIM and to improve interconnectivity with complementary clinical and basic science genetics resources. This article focuses on the content of OMIM, the process and intent of disease classification and nosology, and anticipated improvements in our new Website (http://www.omim.org).
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Cites
The human phenotype ontology: a tool for annotating and analyzing human hereditary disease
Robinson, P. N., Köhler, S., Bauer, S., Seelow, D., Horn, D., & Mundlos, S. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.09.017 · Cited by 1,034
Smith, C. L., Goldsmith, C.-A. W., & Eppig, J. T. (2004) · Genome Biology · doi:10.1186/gb-2004-6-1-r7 · Cited by 417
Kosho, T., Miyake, N., Hatamochi, A., Takahashi, J., Kato, H., Miyahara, T., Igawa, Y., Yasui, H., Ishida, T., Ono, K., et al. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33498 · Cited by 88
Kosho, T., Takahashi, J., Ohashi, H., Nishimura, G., Kato, H., & Fukushima, Y. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30965 · Cited by 51
Cited by
ClinVar: public archive of relationships among sequence variation and human phenotype
Landrum, M. J., Lee, J. M., Riley, G. R., Jang, W., Rubinstein, W. S., Church, D. M., & Maglott, D. R. (2014) · Nucleic Acids Research · doi:10.1093/nar/gkt1113 · Cited by 3,516
Amberger, J. S., Bocchini, C. A., Schiettecatte, F., Scott, A. F., & Hamosh, A. (2015) · Nucleic Acids Research · doi:10.1093/nar/gku1205 · Cited by 2,691
Self-citationDisease Ontology: a backbone for disease semantic integration
Schriml, L. M., Arze, C., Nadendla, S., Chang, Y.-W. W., Mazaitis, M., Felix, V., Feng, G., & Kibbe, W. A. (2012) · Nucleic Acids Research · doi:10.1093/nar/gkr972 · Cited by 929
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
Chong, J. X., Buckingham, K. J., Jhangiani, S. N., Boehm, C., Sobreira, N., Smith, J. D., Harrell, T. M., McMillin, M. J., Wiszniewski, W., Gambin, T., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.06.009 · Cited by 643
Self-citationWidespread macromolecular interaction perturbations in human genetic disorders
Sahni, N., Yi, S., Taipale, M., Fuxman Bass, J. I., Coulombe-Huntington, J., Yang, F., Peng, J., Weile, J., Karras, G. I., Wang, Y., et al. (2015) · Cell · doi:10.1016/j.cell.2015.04.013 · Cited by 594
Metadata
- Authors
- Amberger, J., Bocchini, C., & Hamosh, A.
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 2011-04-05
- Volume
- 32
- Issue
- 5
- Pages
- 564-567
- ISSN
- 1059-7794 (ISSN-L)
- OpenAlex
- W2117243134
- Cited by
- 332
- References
- 4
- FWCI
- 28.14
- Type
- journal article
- Language
- en
- Open access
- closed
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
