Databases and Resources (Unit 2)

Aims

The overall objective of Unit 2 is to provide the genetic healthcare workers, the end-users and the health care authorities with a portfolio of quality-assured information sources and informatics tools that are subject to validation and quality procedures.

The second major objective is to avoid duplication and ensure consistency and inter-operability of databases in the field of genetic testing. The specific objectives are:

The databases which will be considered are databases on genetic diseases, genetic tests, mutation databases and sequence databases.

The third major objective is to improve the quality of existing information services. Many groups have produced guidelines for quality standards in health information on the web. It is time to transpose these guidelines in the Human Genetics Database field and to promote their respect by the database producers. The specific objectives are:

General Information

• Unit summary
• Members & contact info
• Documents and publications

State of the art 2005 (Unit 2)
State of the art of information databases and knowledge bases across Europe can be found here

Useful resources

Created or collected by EuroGentest

Laboratory databases

• Find information on a test for a genetic disease or on a laboratory across Europe. Go to

• Find information on the Quality Assurance (QAu) of a laboratory. Go to QAu database
• Other: HGQN, ERNDIM, EMQN, EDDNAL

New Technologies

• Find a technology

EQA Scheme Directories

• Molecular genetics
• Cytogenetics
• Biochemical genetics

Professional organisations and contacts

• Health Professional Organisations
• European Group on Ethics in Science & New Tech.
• European Health Committees
• National Ministries
• National Ethics Committees
• National Societies of Human Genetics (NSHG) in Europe
• National Contacts Cytogenetics
• National Contacts Biochemical Genetics

Education

• Educational Units and Centres
• Educational Courses
  

Support groups

• List of public genetic support groups
• Orphanet

Other

• Reference materials resource list

Orphanet Formal partnership with EuroGentest

Orphanet is a database of rare diseases, which was designed to assist in diagnosing and treating rare diseases, as well as to further clinical research. It has been selected to serve as the central database of the EuroGenTest network. You can find information on:

• diseases, tests, laboratories, professionals, support groups, organisations
• and much more...

News

Events All events

31 May 2008 - ESHG Conference 2008

16 Jun 2007 - ESHG Conference 2007

08 May 2006 - Unit 2 bioinformatic tools at ESHG