Difficulties in finding DNA mutations and associated phenotypic data in web resources using simple, uncomplicated search terms, and a suggested solution

Data on genetic changes are being generated at an ever-increasing rate and mutations (variations which cause genetic diseases [1]) are now being collected and catalogued in many different web-based databases. This information is used, and will increasingly be accessed, by clinicians and health-care workers seeking to determine the significance of a mutation found to be present in any particular patient. It therefore needs to be comprehensive, reliable and readily accessible. It is important that information in databases can be rapidly retrieved, as healthcare workers often have severe constraints on the time which can be spent on any individual patient [2] or patient's diagnostic test [3].The way in which gene variations are collected at present is either in general databases which contain genome-wide data (reviewed by George et al [4].) or in locus-specific databases (LSDBs) (reviewed by Claustres et al [5].), where the emphasis is on collecting data pertaining to one single gene. The advantage of the latter is that they are usually initiated and administered by experts in the field and, as such, tend to contain more data and more reliable data. The potential disadvantages of both types of databases, however, are that--due to their specialist nature--they may not be amenable to simple search techniques for data mining or use by non-geneticists [6]. In order for a wide range of health practitioners easily to access all information pertaining to a particular mutation, it would be highly desirable to be able quickly to interrogate a central web-based resource using simple, uncomplicated terms [7]. The most useful terms potentially being those relating directly to the change in either amino acid or nucleotide.To test the current situation for these types of web searches, we sought to examine the ease of use of both genome-wide databases and LSDBs. We searched for five representative mutations using a variety of straightforward search terms relating to the amino acid or