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The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Overview of attention for article published in European Journal of Human Genetics, December 2016
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  • Above-average Attention Score compared to outputs of the same age (54th percentile)
  • Average Attention Score compared to outputs of the same age and source

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3 tweeters

Citations

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47 Dimensions

Readers on

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56 Mendeley
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Title
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands
Published in
European Journal of Human Genetics, December 2016
DOI 10.1038/ejhg.2016.182
Pubmed ID
Authors

Celia Zazo Seco, Mieke Wesdorp, Ilse Feenstra, Rolph Pfundt, Jayne Y Hehir-Kwa, Stefan H Lelieveld, Steven Castelein, Christian Gilissen, Ilse J de Wijs, Ronald JC Admiraal, Ronald JE Pennings, Henricus PM Kunst, Jiddeke M van de Kamp, Saskia Tamminga, Arjan C Houweling, Astrid S Plomp, Saskia M Maas, Pia AM de Koning Gans, Sarina G Kant, Christa M de Geus, Suzanna GM Frints, Els K Vanhoutte, Marieke F van Dooren, Marie- José H van den Boogaard, Hans Scheffer, Marcel Nelen, Hannie Kremer, Lies Hoefsloot, Margit Schraders, Helger G Yntema

Abstract

Hearing impairment (HI) is genetically heterogeneous which hampers genetic counseling and molecular diagnosis. Testing of several single HI-related genes is laborious and expensive. In this study, we evaluate the diagnostic utility of whole-exome sequencing (WES) targeting a panel of HI-related genes. Two hundred index patients, mostly of Dutch origin, with presumed hereditary HI underwent WES followed by targeted analysis of an HI gene panel of 120 genes. We found causative variants underlying the HI in 67 of 200 patients (33.5%). Eight of these patients have a large homozygous deletion involving STRC, OTOA or USH2A, which could only be identified by copy number variation detection. Variants of uncertain significance were found in 10 patients (5.0%). In the remaining 123 cases, no potentially causative variants were detected (61.5%). In our patient cohort, causative variants in GJB2, USH2A, MYO15A and STRC, and in MYO6 were the leading causes for autosomal recessive and dominant HI, respectively. Segregation analysis and functional analyses of variants of uncertain significance will probably further increase the diagnostic yield of WES.European Journal of Human Genetics advance online publication, 21 December 2016; doi:10.1038/ejhg.2016.182.

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 56 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 1 2%
United States 1 2%
Unknown 54 96%

Demographic breakdown

Readers by professional status Count As %
Researcher 10 18%
Student > Ph. D. Student 10 18%
Other 5 9%
Student > Bachelor 5 9%
Student > Master 4 7%
Other 7 13%
Unknown 15 27%
Readers by discipline Count As %
Medicine and Dentistry 21 38%
Biochemistry, Genetics and Molecular Biology 10 18%
Computer Science 4 7%
Neuroscience 2 4%
Psychology 1 2%
Other 3 5%
Unknown 15 27%

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 07 November 2020.
All research outputs
#9,314,274
of 16,791,453 outputs
Outputs from European Journal of Human Genetics
#2,061
of 2,901 outputs
Outputs of similar age
#172,035
of 390,284 outputs
Outputs of similar age from European Journal of Human Genetics
#43
of 66 outputs
Altmetric has tracked 16,791,453 research outputs across all sources so far. This one is in the 43rd percentile – i.e., 43% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,901 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.4. This one is in the 27th percentile – i.e., 27% of its peers scored the same or lower than it.
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 390,284 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 54% of its contemporaries.
We're also able to compare this research output to 66 others from the same source and published within six weeks on either side of this one. This one is in the 34th percentile – i.e., 34% of its contemporaries scored the same or lower than it.