HGMD Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff Human gene mutation is a highly specific process, and this specificity has important implications for the nature, prevalence and therefore diagnosis of genetic disease. In practical terms, a fuller understanding of the mutational process may prove important in molecular diagnostic medicine by contributing to improvements in the design and efficacy of mutation search procedures and strategies in different genetic disorders. OMIM Online Mendelian Inheritance in Man OMIM is a catalog of human genes and genetic disorders authored and edited by Dr. Victor A. McKusick and his colleagues at Johns Hopkins and elsewhere, and developed for the World Wide Web by NCBI, the National Center for Biotechnology Information. The database contains textual information, pictures, and reference information. This is due to their restricted knowledge of the diseases' natural history, the patient care required, treatment, and sometimes even of its existence.
Scientific knowledge exists, or at least partial knowlege, but it is scattered.
Because of the physical media on which it is communicated, the information is difficult to access for the great majority of physicians, not to mention patients and their families. Only a very small number of doctors specialize in these diseases, and their practices are scarcely known, sometimes even totally unknown to other practitioners. Collaborations to validate the probes are welcomed. Most of the clones have been identified by screening PAC or BAC libraries with appropriate primers. CloneCards is a new database search interface to the Primary Database.