Mutation Database Meeting
27th March 1998
Lingotto Conference Centre
Turin, Italy
15.00-18.30 Hours

Meeting Highlights

A. Coordination of Mutation Databases - Working Group Report.
Reported by Richard G.H. Cotton

B. Nomenclature Working Group Report.

C. Content and Software Working Group Report Reported by Charles Scriver

  1. Follow nomenclature agreement.
  2. Give context for mutations.
  3. Record all allelic variation in coding sequence as they may have an effect on gene function. The definition of mutation vs. polymorphism was discussed as a problem. The term "Allelic variants" was thought to solve this problem.
  4. Structure discussed - flat file vs. relational database, sequence centered, etc.
  5. Essential to have formal documentation.

D. Central Database Working Group Report.

1. OMIM - Reported by Victor McKusick.

2. GDB-Reported by Stan Letovsky

3. HGMD (Cardiff) - Reported by David Cooper (written report & handout)

(See long report in Newsletter 3-:

4. EBI - Reported by Heikki Lehvaslaiho

5. GENATLAS - Reported by Jean Frezal

6. Mutation View - Reported by Nobuyoshi Shimizu.

E. Copyright and Data Protection - Reported by Doug Wallace.

1. Security of LS databases and sustainability of databases

2. Copyright and the web.

a. USA law

b. European Union Data Protection Directive

Pro: Private sector database management groups.
  1. Computer databases are new, a new way of handling information. Whole is greater than the sum of the parts. Current copyright law protects expression, not facts.
  2. Without protection, small projects will die. Since the European Union has protection, the rest of the world needs this. Clinton administration in favor of it. Con: Anyone for free exchange of information US constitution - protects expression, not facts. Any fact in any table can be copied at will. Protection of rights of individual curator vs. right of society for freedom of information.

If there is a document describing the database design, this can be copyrighted. Need to have a formal informatics document. If the initiative comes under HUGO, HUGO directory becomes a value-added document.

F. Quality control - Reported by Richard Cotton

Need for curators to check accuracy of data in databases for the following omissions:
  1. Found in a second PCR product from the patient?
  2. Segregates with the disease?
  3. Conserved during evolution?
  4. Not present in 50 normals (100 alleles)?

G. ALSODatabase

This database will soon be launched.

Turin Meeting-Reported by Arleen Auerbach.

Posted 29th May 1998, by Rania Horaitis