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Last updateTue, 30 Aug 2016 11am

Key project of the Genomic Medicine Alliance Genome Informatics Working Group

The Genomic Medicine Alliance aims to create collaboration ties between academics, researchers, regulators, and the general public interested in all aspects of genomics and personalized medicine. The Alliance provides the means to establish networks and to encourage collaborative work towards advancing the Genomic Medicine discipline, focusing in particular on translating results from academic research into clinical practice.
In particular, the Genomic Medicine Alliance aims to:

  • Encourage and catalyze multidisciplinary collaborative research between partner institutions and scientists, particularly from emerging countries.
  • Liaise among research organizations, clinical entities and regulatory agencies in areas related to genomic medicine.
  • Facilitate the introduction of pharmacogenomics and advanced omics technologies into the mainstream clinical practice.
  • Produce and propose guidelines and recommendations in all areas pertaining to genomic medicine, always in close collaboration with other scientific academic entities, agencies and regulatory bodies.
  • Develop, independently or in close collaboration with partner institutions, and coordinate educational activities in the area of genomic medicine.

The Genomic Medicine Alliance activities are divided into distinct Working Groups. One of the main goals of the Genome Informatics working group is to develop National/Ethnic Mutation Databases are mutation depositories, recording extensive information over the described genetic heterogeneity of an ethnic group or population. Until now, there are several National/Ethnic Genetic databases, many of which are developed using the ETHNOS software, an off-the-shelf bioinformatics suite developed in 2003 by the Golden Helix Institute of Biomedical Research to facilitate development and curation of National/Ethnic Genetic and Mutation frequency databases. These databases can be exploited as a central repository for the genetic services in any given country. Since 2012, the ETHNOS software has been upgraded with new functionalities.

This working group is currently in the process of migrating existing National/Ethnic Mutation Databases, such as the Greek, Cypriot, Iranian, Lebanese, Israeli, Egyptian, etc, into the upgraded software, while other new National/Ethnic Mutation Databases are currently being developed.

About us

As molecular genetic testing and electronic healthcare records become increasingly common features of modern medical practice, there is a need to integrate information in genetic databases to establish a detailed understanding of how genome sequence differences impact on human health.

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  • Tel: +44-(0)207-608.51.91
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