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Rare coding variant analysis in a large cohort of Ashkenazi Jewish families with inflammatory bowel disease

Overview of attention for article published in Human Genetics, August 2018
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Mentioned by

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3 tweeters

Citations

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3 Dimensions

Readers on

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12 Mendeley
Title
Rare coding variant analysis in a large cohort of Ashkenazi Jewish families with inflammatory bowel disease
Published in
Human Genetics, August 2018
DOI 10.1007/s00439-018-1927-7
Pubmed ID
Authors

E. R. Schiff, M. Frampton, N. Ben-Yosef, B. E. Avila, F. Semplici, N. Pontikos, S. L. Bloom, S. A. McCartney, R. Vega, L. B. Lovat, E. Wood, A. Hart, E. Israeli, D. Crespi, M. A. Furman, S. Mann, C. D. Murray, A. W. Segal, A. P. Levine

Abstract

Rare variants are thought to contribute to the genetics of inflammatory bowel disease (IBD), which is more common amongst the Ashkenazi Jewish (AJ) population. A family-based approach using exome sequencing of AJ individuals with IBD was employed with a view to identify novel rare genetic variants for this disease. Exome sequencing was performed on 960 Jewish individuals including 513 from 199 multiplex families with up to eight cases. Rare, damaging variants in loci prioritized by linkage analysis and those shared by multiple affected individuals within the same family were identified. Independent evidence of association of each variant with disease was assessed. A number of candidate variants were identified, including in genes involved in the immune system. The ability to achieve statistical significance in independent case/control replication data was limited by power and was only achieved for variants in the well-established Crohn's disease gene, NOD2. This work demonstrates the challenges of identifying disease-associated rare damaging variants from exome data, even amongst a favorable cohort of familial cases from a genetic isolate. Further research of the prioritized rare candidate variants is required to confirm their association with the disease.

Twitter Demographics

The data shown below were collected from the profiles of 3 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 12 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 12 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 3 25%
Professor 2 17%
Unspecified 2 17%
Student > Bachelor 2 17%
Librarian 1 8%
Other 1 8%
Unknown 1 8%
Readers by discipline Count As %
Unspecified 5 42%
Biochemistry, Genetics and Molecular Biology 2 17%
Medicine and Dentistry 2 17%
Agricultural and Biological Sciences 1 8%
Computer Science 1 8%
Other 0 0%
Unknown 1 8%

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 08 May 2019.
All research outputs
#7,681,327
of 13,333,212 outputs
Outputs from Human Genetics
#2,111
of 2,547 outputs
Outputs of similar age
#136,667
of 264,331 outputs
Outputs of similar age from Human Genetics
#14
of 24 outputs
Altmetric has tracked 13,333,212 research outputs across all sources so far. This one is in the 40th percentile – i.e., 40% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,547 research outputs from this source. They receive a mean Attention Score of 4.8. This one is in the 15th percentile – i.e., 15% of its peers scored the same or lower than it.
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We're also able to compare this research output to 24 others from the same source and published within six weeks on either side of this one. This one is in the 37th percentile – i.e., 37% of its contemporaries scored the same or lower than it.