OMIM.org: Leveraging knowledge across phenotype-gene relationships

Nucleic Acids Research

Volumn 47, Issue D1, 2019, Pages D1038-D1043

  Amberger, Joanna S ^a   Bocchini, Carol A ^a   Scott, Alan F ^a   Hamosh, Ada ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; GENE MAPPING; GENETIC HETEROGENEITY; HUMAN; MALE; MEDICAL GENETICS; PHENOTYPE; BIOLOGY; GENETIC ASSOCIATION STUDY; GENETIC DATABASE; GENETIC DISORDER; GENETIC PREDISPOSITION; GENETICS; GENOMICS; INFORMATION RETRIEVAL; INHERITANCE; INTERNET; PROCEDURES;

COMPUTATIONAL BIOLOGY; DATABASES, GENETIC; GENETIC ASSOCIATION STUDIES; GENETIC DISEASES, INBORN; GENETIC PREDISPOSITION TO DISEASE; GENETICS, MEDICAL; GENOMICS; HUMANS; INFORMATION STORAGE AND RETRIEVAL; INHERITANCE PATTERNS; INTERNET;

EID: 85059796305     PISSN: 03051048     EISSN: 13624962     Source Type: Journal    
DOI: 10.1093/nar/gky1151     Document Type: Article

References (12)

1. McKusick, V.A. (1998) Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders. 12th edn. Johns Hopkins University Press, Baltimore.
2. Amberger, J.S., Bocchini, C.A., Schiettecatte, F., Scott, A.F. And Hamosh, A. (2015) OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders. Nucleic Acids Res., 43, D789-D798.
3. Wei, C.H., Kao, H.Y. And Lu, Z. (2013) PubTator: a web-based text mining tool for assisting biocuration. Nucleic Acids Res., 41, W518-W522.
4. Bodenreider, O. And Burgun, A. (2004) Aligning knowledge sources in the UMLS: methods, quantitative results, and applications. Stud. Health Technol. Inform., 107, 327-331.
5. Kohler, S., Vasilevsky, N.A., Engelstad, M., Foster, E., McMurry, J., Ayme, S., Baynam, G., Bello, S.M., Boerkoel, C.F., Boycott, K.M. Et al. (2017) The Human Phenotype Ontology in 2017. Nucleic Acids Res., 45, D865-D876.
6. Bello, S.M., Shimoyama, M., Mitraka, E., Laulederkind, S.J.F., Smith, C.L., Eppig, J.T. And Schriml, L.M. (2018) Disease Ontology: improving and unifying disease annotations across species. Dis. Model Mech., 11, dmm032839.
7. Rath, A., Olry, A., Dhombres, F., Brandt, M.M., Urbero, B. And Ayme, S. (2012) Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users. Hum. Mutat., 33, 803-808.
8. Amberger, J.S. And Hamosh, A. (2017) Searching Online Mendelian Inheritance in Man (OMIM): a knowledgebase of human genes and genetic phenotypes. Curr. Protoc. Bioinformatics, 58, 1.2.1-1.2.12.
9. Lek, M., Karczewski, K.J., Minikel, E.V., Samocha, K.E., Banks, E., Fennell, T., O'Donnell-Luria, A.H., Ware, J.S., Hill, A.J., Cummings, B.B. Et al. (2016) Analysis of protein-coding genetic variation in 60, 706 humans. Nature, 536, 285-291.
10. Landrum, M.J., Lee, J.M., Riley, G.R., Jang, W, Rubinstein, W.S., Church, D.M. And Maglott, D.R. (2014) ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res., 42, D980-D985.
11. Straub, V., Murphy, A., Udd, B. And LGMD workshop study group. (2018) 229th ENMC international workshop: Limb girdle muscular dystrophies-nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. Neuromuscul. Disord., 28, 702-710.
12. Rehm, H.L., Berg, J.S., Brooks, L.D., Bustamante, C.D., Evans, J.P., Landrum, M.J., Ledbetter, D.H., Maglott, D.R., Martin, C.L., Nussbaum, R.L. Et al. (2015) ClinGen-the clinical genome resource. N. Engl. J. Med., 372, 2235-2242.