以色列国家基因数据库：十年经验
The Israeli National Genetic database: a 10-year experience.
作者信息
Zlotogora Joël, Patrinos George P
机构信息
Faculty of Medicine, Hebrew University, Jerusalem, Israel.
Department of Pharmacy, University of Patras School of Health Sciences, University Campus, Rion, 26504, Patras, Greece.
出版信息
Hum Genomics. 2017 Mar 16;11(1):5. doi: 10.1186/s40246-017-0100-z.
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.
背景
以色列国家与种族突变数据库（http://server.goldenhelix.org/israeli ）于2006年9月在ETHNOS软件上启动，收录了以色列犹太人和阿拉伯患者中报告的临床相关基因组变异。2016年，该数据库根据ClinVar（https://www.ncbi.nlm.nih.gov/clinvar ）和ExAC（http://exac.broadinstitute.org ）数据库条目进行了审核和校正。本文总结了该数据库在10年期间的开发和持续更新中的一些关键方面，可为其他类似资源的成功数据库管理提供范例。
结果
2016年9月，数据库中有2444条记录，其中犹太人中有890条，以色列阿拉伯人中有1376条，巴勒斯坦阿拉伯人中有178条，与最初启动时相比，数据量增加了约4倍。虽然以色列阿拉伯人口比犹太人口少得多，但数据库中报告的导致隐性疾病的致病变异数量在阿拉伯人（934个）中高于犹太人（648个）。然而，数据库中分类为奠基者突变的致病变异数量在阿拉伯人（175个）中比犹太人（192个）少。2016年，将整个数据库内容与ClinVar和ExAC等其他数据库进行了比较。我们发现，ExAC中存在的以色列遗传数据库致病变异百分比在犹太人群体（31.8%）和以色列阿拉伯人群体（20.6%）之间存在显著差异。
结论
以色列遗传数据库于2006年在ETHNOS软件上启动，此后一直在线可用。它允许根据疾病和种族查询数据库；然而，许多其他功能不可用，特别是根据基因名称进行搜索的可能性。此外，由于先前ETHNOS软件的技术限制，数据库的当前在线版本中未包含新功能和数据，目前正在进行升级。
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