Review: Online Mendelian Inheritance in Man
(published in College and Research Libraries News, June 1995)
The explosive growth of molecular biology has increased research in
and knowledge of genetic diseases, often identifying the specific
chromosomal location of genes and holding out hope of possible
treatment for some inherited afflictions. The standard reference for
genetic disease is Mendelian Inheritance in Man (edited
by Victor McKusick and published by Johns Hopkins Press), now in its
11th edition. The first edition in 1966 was 344 pages; the 1994
edition is more than 3000 pages in two hefty volumes. Each entry
includes a concise description of the discovery history of the
particular genetic disease, extensive references to the research
literature, and a clinical synopsis to aid in diagnosis.
Online Mendelian Inheritance in Man (OMIM) is the
electronic version, under active development and revision with daily
updates as new literature appears. OMIM is accessible via WWW and
gopher:
- WWW: http://gdbwww.gdb.org
- gopher: gopher.gdb.org (under 'Search Databases at Hopkins')
The WWW version offers a forms-based search interface, incorporates a
growing array of multimedia additions (images, video and sound files
in some entries), and permits links to chromosome maps from the
Genome Data Base (GDB). In the WWW version entries appear as
hypertext, with links to related entries and to bibliographic
citations. The gopher version is limited to keyword searching.
OMIM is obviously an essential tool for medical and genetic research,
but it has a more general utility as an example of the Web's evolving
potentials as an information delivery medium. Reference librarians
and Internet trainers who have no particular interest in genetic
diseases can use OMIM as a means to answer questions and illustrate
searching strategies in indexed databases. A few examples will make
this clear.
A query by keyword, by author's name, or by specific OMIM heading
returns a relevance-ranked list of entries in which the search term
appears. Boolean searching and wild-card matching are supported.
Try:
- jumping Frenchman in the title field [a favorite example, readily understood by lay audiences]
- Wallace and D. in references field [retrieves 69 entries with references to articles by D.C. Wallace, a leader in research in mitochondrial DNA]
- hepatomegaly in clinical synopsis field [entries where enlarged liver is a symptom --an example of a possible diagnostic use]
If you have a graphic browser with sound and video capability these
examples indicate the direction of OMIM's future development:
- 143100 in OMIM number field [Huntington Disease, with several .mpg video clips]
- "cri-du-chat" in title field [contains a .gif image and .au sound file]
OMIM is a marvelous example of the possibilities for timely
distribution of complex information. Within a few years search
interfaces as effective as this will be quite common, and many
subject areas will have multimedia presentation utilities; for now,
OMIM is a welcome harbinger of future developments.