Bridging the gap between molecular genetics and metabolic medicine: access to genetic information

摘要: Thanks to the World Wide Web, most results of research in genetics are made available public databases. At present time there resources on genetic diseases, genes and their location, mutations already cloned laboratories performing mutation analysis. The main phenotypes On-line Mendelian Inheritance Man (OMIM), Pedbase, GeneClinics, London Dysmorphology Database (LDDB) Orphanet. human are, addition OMIM, Genome Database, Genatlas Genecard. There also two major sequence All them can be queried using OMIM number disease. Central databases mutations, as well locus specific have been created. Their list is maintained at Human Organisation database initiative website. Several taken integrate all these data help clinician find out quickly what he/she needs. website National Center for Biotechnology Information best example such an effort with sections a genome guide, links. testing established. GeneTests on-line resource that contains directory North American providing heritable disorders. Orphanet similar French services which process becoming European database.