URL: | http://server.goldenhelix.org/israeli/ |
Full name: | The Israeli National Genetic database |
Description: | This is an online repository of information about inherited disorders in the Israeli population. The data come mostly from publications in the scientific literature as well as some unpublished information contributed from individual clinicians. The database intends to include all recessive Mendelian disorders and dominant Mendelian disorders that are either relatively frequent, or in which a mutation has been reported with an increased frequency. |
Year founded: | 2005 |
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Country/Region: | Israel |
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University/Institution: | Hebrew University |
Address: | Faculty of Medicine, Hebrew University, Jerusalem, Israel |
City: | Jerusalem |
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Country/Region: | Israel |
Contact name (PI/Team): | Joël Zlotogora |
Contact email (PI/Helpdesk): | zlotogora@gmail.com |
The Israeli National Genetic database: a 10-year experience. [PMID: 28302154]
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. |
DNA, diseases and databases: disastrously deficient. [PMID: 15922832]
Recent progress in disease genetics and genome-related medicine has been substantial, with vast amounts of data being generated. However, this progress has not been matched by adequate database projects that gather and organize these data to enable their useful exploitation. This research area is complex, entailing core databases, locus-specific databases, national mutation databases, genotype-phenotype databases and patient databases--and much work is required to develop and properly integrate these various resources. To promote this, we present a timely overview of the field, emphasize its over-riding importance and discuss the disastrously deficient progress made so far. Many factors contribute to this slow progress (e.g. technological hurdles, publication requirements, the short-sighted and popularist research system). A lack of targeted funding is arguably the most fundamental problem, but one that can be solved. |