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The Israeli National Genetic database: a 10-year experience

Overview of attention for article published in Human Genomics, March 2017
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (86th percentile)
  • High Attention Score compared to outputs of the same age and source (83rd percentile)

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Title
The Israeli National Genetic database: a 10-year experience
Published in
Human Genomics, March 2017
DOI 10.1186/s40246-017-0100-z
Pubmed ID
Authors

Joël Zlotogora, George P. Patrinos

Abstract

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. 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%). 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.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 23 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 4%
Unknown 22 96%

Demographic breakdown

Readers by professional status Count As %
Other 4 17%
Researcher 4 17%
Student > Ph. D. Student 3 13%
Student > Bachelor 2 9%
Professor 1 4%
Other 2 9%
Unknown 7 30%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 7 30%
Medicine and Dentistry 2 9%
Nursing and Health Professions 1 4%
Computer Science 1 4%
Agricultural and Biological Sciences 1 4%
Other 2 9%
Unknown 9 39%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 16. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 02 May 2024.
All research outputs
#2,339,662
of 25,836,587 outputs
Outputs from Human Genomics
#59
of 574 outputs
Outputs of similar age
#42,699
of 323,643 outputs
Outputs of similar age from Human Genomics
#1
of 6 outputs
Altmetric has tracked 25,836,587 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 90th percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 574 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.9. This one has done well, scoring higher than 89% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 323,643 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 86% of its contemporaries.
We're also able to compare this research output to 6 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them