title: Advances in genome research and molecular diagnostics.
abstract: A diverse scala of refined molecular techniques, developed during early positional cloning and the Human Genome project, has caused a rapid increase of our insight into the cause of genetic diseases. Nowadays, from cytogenetic rearrangements to point mutations can be readily detected by a variety of techniques. This not only has broadened our understanding, but has also enormously assisted in providing rapid and specific diagnosis, hence reducing uncertainty and improving the choices for those concerned with genetic disease in their family. While initially restricted to the DNA-level, diagnostic technology has gradually been tailored to suit the specifics of the diseases in question, incorporating RNA and protein analysis. The latest development in the analysis of genetic disease is reviewed.
authors.affiliation: Department of Human Genetics, University of Leiden, Wassenaarseweg, The Netherlands.
authors.forename: G J
authors.initials: GJ
authors.lastname: van Ommen
mesh_terms: D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D005821:Genetic Techniques; D005820:Genetic Testing; D016678:Genome; D006801:Humans; D009154:Mutation; D012106:Research