Human Genome News, November 1991; 3(4)
Sponsored by the U.S. Department of Energy Human Genome Program
Human Genome News Archive Edition
Gene mapping and sequencing information in GDB will continue to be integrated with clinical genetics data already at Hopkins in OMIM, a catalog of all known human phenotypes, gene locations and functions, and disease effects. OMIM contains information on more than 5500 inherited traits and diseases. Updated daily by McKusick's staff, the database serves both the clinical and laboratory communities by providing data helpful in differential diagnosis, genetic counseling, biochemical defect identification, and linkage studies.
OMIM entries are arranged by clinical disorder or trait name (including MIM number) and may list clinical observations, inheritance patterns, linkage information, allelic variants, chromosomal location, defective gene products, and references.
Searchers can locate relevant information in OMIM and then use the MIM number or chromosomal location for cross-referencing with GDB. A direct searching link through MIM numbers leads to entries in OMIM, and a similar link to GDB is planned.
GDB/OMIM User Support provides assistance, training, and documentation to the scientific community in a number of general interest and technical areas, including registration, access, communication, and scientific/data issues. The staff encourages user feedback to correct errors and identify areas for future enhancement. Details on registration and requirements for accessing the databases are given in GDB User Support and Submitting Data to GDB.
To meet the needs of GDB users, two training courses will be offered without charge next year in Baltimore to provide comprehensive hands-on experience. A 2-day course for the general scientific user will provide a basic understanding of GDB and OMIM and the relationships among the different data. A 3-day course, to include directions on adding, modifying, and deleting GDB data, is designed for users who have editing privileges. Current and potential users interested in attending a course should contact GDB/OMIM User Support at the Baltimore address as soon as possible so the course schedule can reflect user needs. (See related article.)
GDB and OMIM may be accessed online through (1) SprintNet (Telenet) from a modem at 1200, 2400, or 9600 baud or (2) the Internet computer network. Hardware and software requirements for accessing the Welch Library computer are detailed below.
WelComm, a free, specially prepared communications program that allows database access to SprintNet via modem for U.S. users, is available on diskette for both the IBM-compatible PC and the Apple Macintosh systems. The WelComm software supports function keys for GDB. Other commercial communications software packages can also be used.
For database access through Internet, a Sun workstation or other hardware must have a program that allows emulation of a VT100, VT220, or VT320 series terminal. For Sun workstations such a program is crttool, the public-domain package available by anonymous file transfer protocol from general distribution sites such as titan.rice.edu or uunet.uu.net.
Crttool has provided reliable access for some users, but because it is public-domain software, GDB/OMIM staff do not offer technical support and cannot guarantee how it will work with GDB on any specific workstation.
Any software supporting the TCP/IP protocol can also be used for Internet access [e.g., National Center for Supercomputing Applications (NCSA) Telnet].
Although users worldwide can access the GDB and OMIM databases through either SprintNet (Telenet) or Internet, communication through networks is not always reliable.
To increase database accessibility outside the United States, a series of remote, self-supporting distribution sites (nodes) is being established, the first of which has been providing service to U.K. users since the fall of 1990. The remote site is run by the Medical Research Council, which set up the U.K. Human Gene Mapping Resource Center.
A second remote site, initiated by the European Community at the German Cancer Research Center in Heidelberg, Germany, began providing service to European users in the fall of this year. Other centers are planned in Japan, Australia, and Sweden. Names and addresses of contacts at existing remote sites are listed in GDB User Support, Services, and Registration.
Reported by GDB Staff
The electronic form of the newsletter may be cited in the following style:
Human Genome Program, U.S. Department of Energy, Human Genome News (v3n4).
The Human Genome Project (HGP) was an international 13-year effort, 1990 to 2003. Primary goals were to discover the complete set of human genes and make them accessible for further biological study, and determine the complete sequence of DNA bases in the human genome. See Timeline for more HGP history.
Published from 1989 until 2002, this newsletter facilitated HGP communication, helped prevent duplication of research effort, and informed persons interested in genome research.