The Israeli National Genetic database: a 10-year experience
Human genomics , Volume 11 - Issue 1 p. 5
BACKGROUND: The Israeli National and Ethnic Mutation database ( http://server.goldenhelix.org/israeli ) was launched in September 2006 on the ETHNOS software to include clinically relevant genomic variants reported among Jewish and Arab Israeli patients. In 2016, the database was reviewed and corrected according to ClinVar ( https://www.ncbi.nlm.nih.gov/clinvar ) and ExAC ( http://exac.broadinstitute.org ) database entries. The present article summarizes some key aspects from the development and continuous update of the database over a 10-year period, which could serve as a paradigm of successful database curation for other similar resources.RESULTS: In September 2016, there were 2444 entries in the database, 890 among Jews, 1376 among Israeli Arabs, and 178 entries among Palestinian Arabs, corresponding to an ~4× data content increase compared to when originally launched. While the Israeli Arab population is much smaller than the Jewish population, the number of pathogenic variants causing recessive disorders reported in the database is higher among Arabs (934) than among Jews (648). Nevertheless, the number of pathogenic variants classified as founder mutations in the database is smaller among Arabs (175) than among Jews (192). In 2016, the entire database content was compared to that of other databases such as ClinVar and ExAC. We show that a significant difference in the percentage of pathogenic variants from the Israeli genetic database that were present in ExAC was observed between the Jewish population (31.8%) and the Israeli Arab population (20.6%).CONCLUSIONS: The Israeli genetic database was launched in 2006 on the ETHNOS software and is available online ever since. It allows querying the database according to the disorder and the ethnicity; however, many other features are not available, in particular the possibility to search according to the name of the gene. In addition, due to the technical limitations of the previous ETHNOS software, new features and data are not included in the present online version of the database and upgrade is currently ongoing.
|Arabs, Database, Founder effect, Genetic disorders, Israel|
|This work was funded by the European Commission 7th Framework Programme; grant id fp7/200754 - Genotype-To-Phenotype Databases: A Holistic Solution (GEN2PHEN), This work was funded by the European Commission 7th Framework Programme; grant id fp7/305444 - RD-CONNECT: An integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research (RD-CONNECT)|
|Organisation||Department of Bioinformatics|
Zlotogora, J, & Patrinos, G.P. (2017). The Israeli National Genetic database: a 10-year experience. Human genomics, 11(1). doi:10.1186/s40246-017-0100-z