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Characterizing the morbid genome of ciliopathies

Overview of attention for article published in Genome Biology (Online Edition), November 2016
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About this Attention Score

  • In the top 5% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (93rd percentile)
  • Above-average Attention Score compared to outputs of the same age and source (60th percentile)

Mentioned by

news
1 news outlet
blogs
1 blog
twitter
9 tweeters
wikipedia
1 Wikipedia page

Citations

dimensions_citation
108 Dimensions

Readers on

mendeley
124 Mendeley
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Title
Characterizing the morbid genome of ciliopathies
Published in
Genome Biology (Online Edition), November 2016
DOI 10.1186/s13059-016-1099-5
Pubmed ID
Authors

Ranad Shaheen, Katarzyna Szymanska, Basudha Basu, Nisha Patel, Nour Ewida, Eissa Faqeih, Amal Al Hashem, Nada Derar, Hadeel Alsharif, Mohammed A. Aldahmesh, Anas M. Alazami, Mais Hashem, Niema Ibrahim, Firdous M. Abdulwahab, Rawda Sonbul, Hisham Alkuraya, Maha Alnemer, Saeed Al Tala, Muneera Al-Husain, Heba Morsy, Mohammed Zain Seidahmed, Neama Meriki, Mohammed Al-Owain, Saad AlShahwan, Brahim Tabarki, Mustafa A. Salih, Tariq Faquih, Mohamed El-Kalioby, Marius Ueffing, Karsten Boldt, Clare V. Logan, David A. Parry, Nada Al Tassan, Dorota Monies, Andre Megarbane, Mohamed Abouelhoda, Anason Halees, Colin A. Johnson, Fowzan S. Alkuraya

Abstract

Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable progress has been made in understanding the molecular basis of these genetically heterogeneous conditions; however, our knowledge of their morbid genome, pleiotropy, and variable expressivity remains incomplete. We applied genomic approaches on a large patient cohort of 371 affected individuals from 265 families, with phenotypes that span the entire ciliopathy spectrum. Likely causal mutations in previously described ciliopathy genes were identified in 85% (225/265) of the families, adding 32 novel alleles. Consistent with a fully penetrant model for these genes, we found no significant difference in their "mutation load" beyond the causal variants between our ciliopathy cohort and a control non-ciliopathy cohort. Genomic analysis of our cohort further identified mutations in a novel morbid gene TXNDC15, encoding a thiol isomerase, based on independent loss of function mutations in individuals with a consistent ciliopathy phenotype (Meckel-Gruber syndrome) and a functional effect of its deficiency on ciliary signaling. Our study also highlighted seven novel candidate genes (TRAPPC3, EXOC3L2, FAM98C, C17orf61, LRRCC1, NEK4, and CELSR2) some of which have established links to ciliogenesis. Finally, we show that the morbid genome of ciliopathies encompasses many founder mutations, the combined carrier frequency of which accounts for a high disease burden in the study population. Our study increases our understanding of the morbid genome of ciliopathies. We also provide the strongest evidence, to date, in support of the classical Mendelian inheritance of Bardet-Biedl syndrome and other ciliopathies.

Twitter Demographics

The data shown below were collected from the profiles of 9 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 124 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 1 <1%
Netherlands 1 <1%
Sweden 1 <1%
Taiwan 1 <1%
Unknown 120 97%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 30 24%
Researcher 19 15%
Student > Bachelor 13 10%
Student > Master 11 9%
Professor 10 8%
Other 28 23%
Unknown 13 10%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 48 39%
Medicine and Dentistry 25 20%
Agricultural and Biological Sciences 13 10%
Nursing and Health Professions 3 2%
Computer Science 3 2%
Other 14 11%
Unknown 18 15%

Attention Score in Context

This research output has an Altmetric Attention Score of 29. 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 19 December 2020.
All research outputs
#1,140,755
of 22,903,988 outputs
Outputs from Genome Biology (Online Edition)
#952
of 4,127 outputs
Outputs of similar age
#25,310
of 416,651 outputs
Outputs of similar age from Genome Biology (Online Edition)
#22
of 56 outputs
Altmetric has tracked 22,903,988 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 95th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 4,127 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 27.6. This one has done well, scoring higher than 76% 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 416,651 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 93% of its contemporaries.
We're also able to compare this research output to 56 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 60% of its contemporaries.