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Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users’ views

Overview of attention for article published in BMC Medical Genomics, August 2016
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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 (90th percentile)
  • High Attention Score compared to outputs of the same age and source (95th percentile)

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1 news outlet
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14 X users
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2 Facebook pages

Citations

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64 Dimensions

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68 Mendeley
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Title
Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users’ views
Published in
BMC Medical Genomics, August 2016
DOI 10.1186/s12920-016-0213-6
Pubmed ID
Authors

Gabrielle Bertier, Martin Hétu, Yann Joly

Abstract

Whole-exome sequencing (WES) consists in the capture, sequencing and analysis of all exons in the human genome. Originally developed in the research context, this technology is now increasingly used clinically to inform patient care. The implementation of WES into healthcare poses significant organizational, regulatory, and ethical hurdles, which are widely discussed in the literature. In order to inform future policy decisions on the integration of WES into standard clinical practice, we performed a systematic literature review to identify the most important challenges directly reported by technology users. Out of 2094 articles, we selected and analyzed 147 which reported a total of 23 different challenges linked to the production, analysis, reporting and sharing of patients' WES data. Interpretation of variants of unknown significance, incidental findings, and the cost and reimbursement of WES-based tests were the most reported challenges across all articles. WES is already used in the clinical setting, and may soon be considered the standard of care for specific medical conditions. Yet, technology users are calling for certain standards and guidelines to be published before this technology replaces more focused approaches such as gene panels sequencing. In addition, a number of infrastructural adjustments will have to be made for clinics to store, process and analyze the amounts of data produced by WES.

X Demographics

X Demographics

The data shown below were collected from the profiles of 14 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 68 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 68 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 16 24%
Student > Bachelor 11 16%
Student > Ph. D. Student 10 15%
Researcher 9 13%
Other 6 9%
Other 6 9%
Unknown 10 15%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 27 40%
Medicine and Dentistry 11 16%
Agricultural and Biological Sciences 4 6%
Business, Management and Accounting 2 3%
Engineering 2 3%
Other 12 18%
Unknown 10 15%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 18. 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 June 2017.
All research outputs
#2,027,267
of 25,196,456 outputs
Outputs from BMC Medical Genomics
#56
of 1,385 outputs
Outputs of similar age
#36,016
of 365,042 outputs
Outputs of similar age from BMC Medical Genomics
#2
of 20 outputs
Altmetric has tracked 25,196,456 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 91st percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,385 research outputs from this source. They receive a mean Attention Score of 4.6. This one has done particularly well, scoring higher than 96% 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 365,042 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 90% of its contemporaries.
We're also able to compare this research output to 20 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 95% of its contemporaries.