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Unsolved challenges in pediatric whole-exome sequencing: A literature analysis

Overview of attention for article published in Critical Reviews in Clinical Laboratory Sciences, January 2017
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • Among the highest-scoring outputs from this source (#21 of 318)
  • High Attention Score compared to outputs of the same age (88th percentile)
  • High Attention Score compared to outputs of the same age and source (99th percentile)

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1 policy source
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16 X users
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1 Facebook page

Citations

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22 Dimensions

Readers on

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45 Mendeley
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1 CiteULike
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Title
Unsolved challenges in pediatric whole-exome sequencing: A literature analysis
Published in
Critical Reviews in Clinical Laboratory Sciences, January 2017
DOI 10.1080/10408363.2016.1275516
Pubmed ID
Authors

Gabrielle Bertier, Karine Sénécal, Pascal Borry, Danya F. Vears

Abstract

Whole-exome sequencing (WES) has been instrumental in the discovery of novel genes and mechanisms causing Mendelian diseases. While this technology is now being successfully applied in a number of clinics, particularly to diagnose patients with rare diseases, it also raises a number of ethical, legal and social issues. In order to identify what challenges were directly foreseen by technology users, we performed a systematic review of the literature. In this paper, we focus on recent publications related to the use of WES in the pediatric context and analyze the most prominent challenges raised by technology users. This is particularly relevant considering that a) most patients currently undergoing testing using WES to identify the genetic basis for rare diseases are children and b) their lack of capacity to consent for themselves makes them a vulnerable population and generates the need for specific ethical, legal and regulatory procedures. We identified key challenges that related to four main categories: (1) intake; (2) sequence production and analysis; (3) reporting of results and counseling considerations and (4) collaborative data interpretation and data sharing. We then contextualize these challenges in light of the recent recommendations and guidelines, published by professional societies that have significant potential to impact the field.

X Demographics

X Demographics

The data shown below were collected from the profiles of 16 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 45 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 45 100%

Demographic breakdown

Readers by professional status Count As %
Other 6 13%
Student > Ph. D. Student 6 13%
Researcher 6 13%
Student > Master 6 13%
Student > Bachelor 3 7%
Other 8 18%
Unknown 10 22%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 13 29%
Medicine and Dentistry 8 18%
Agricultural and Biological Sciences 3 7%
Nursing and Health Professions 3 7%
Social Sciences 2 4%
Other 3 7%
Unknown 13 29%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 14. 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 11 November 2019.
All research outputs
#2,147,801
of 22,919,505 outputs
Outputs from Critical Reviews in Clinical Laboratory Sciences
#21
of 318 outputs
Outputs of similar age
#47,720
of 419,365 outputs
Outputs of similar age from Critical Reviews in Clinical Laboratory Sciences
#1
of 6 outputs
Altmetric has tracked 22,919,505 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 318 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.0. This one has done particularly well, scoring higher than 93% 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 419,365 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 88% 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