Genome Informatics

The 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.




Shared genomes

In the post-genomic era, where next-generation sequencing technologies are being more and more frequently employed for the elucidation of the genetic basis of hereditary disorders, it has become imperative for researchers to share whole genome sequencing data to better appreciate the extend of the human variome.

This project aims to develop an electronic repository of human whole exome and whole genome sequencing data for researchers to contribute their findings in an effort to create a whole genome variation data warehouse with possible implications in Genomic Medicine and population genomics. Also, in order to incentivize researchers to contribute their data, we have decided to employ the microattribution approach that provides credit to data contributors for sharing their data.



Giardine et al. Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. Nature Genet 43(4):295-301, 2011.

Home Working Groups Genome informatics

You can find us


145 -157 St John Street, London, EC1V 4PW, UK

Tel: +44-(0)207-608.51.91,
E-mail: gma(AT)goldenhelix{DOT}org