caa a22 4500 475786920 CHVBK 20180406123701.0 cr unu---uuuuu 170329e20001201xx s 000 0 eng 10.1007/PL00014399 doi (NATIONALLICENCE)springer-10.1007/PL00014399 Aymé Ségolène INSERM SC11, Gene Mapping and Clinical Research, 16 avenue Paul Vaillant Couturier, 94807 Villejuif cedex, France e-mail: Ayme@infobiogen.fr Tel.: +33-1-45595240; Fax: +33-1-45595250, FR aut Bridging the gap between molecular genetics and metabolic medicine: access to genetic information [Elektronische Daten] [Ségolène Aymé] Thanks to the World Wide Web, most results of research in genetics are made available in public databases. At the present time there are resources on genetic diseases, genes and their location, mutations of already cloned genes and on laboratories performing the mutation analysis. The main resources on phenotypes are On-line Mendelian Inheritance in Man (OMIM), Pedbase, GeneClinics, London Dysmorphology Database (LDDB) and Orphanet. The main resources on human genes are, in addition to OMIM, the Genome Database, Genatlas and Genecard. There are also two major sequence databases. All of them can be queried using the OMIM number of the disease. Central databases of mutations, as well as locus specific databases have been created. Their list is maintained at the Human Genome Organisation mutation database initiative website. Several initiative have been taken to integrate all these data and help the clinician to find out quickly what he/she needs. The website of the National Center for Biotechnology Information is the best example of such an effort with sections on diseases, a genome guide, and locus links. Several databases of genetic testing resources have been established. GeneTests is an on-line genetics resource that contains a directory of North American laboratories providing testing for heritable disorders. Orphanet is a similar database on French services which is in the process of becoming a European database. Conclusion Even if clinicians do not have as many services at their disposal as the molecular geneticists, various useful databases already exist and should no longer be ignored in practice. Springer-Verlag Berlin Heidelberg, 2000 Key words Database nationallicence Genetics nationallicence Information services nationallicence Internet nationallicence Mutation nationallicence https://doi.org/10.1007/PL00014399 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/PL00014399 text/html Onlinezugriff via DOI NATIONALLICENCE 100 1- Aymé Ségolène INSERM SC11, Gene Mapping and Clinical Research, 16 avenue Paul Vaillant Couturier, 94807 Villejuif cedex, France e-mail: Ayme@infobiogen.fr Tel.: +33-1-45595240; Fax: +33-1-45595250, FR aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer