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Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes

Overview of attention for article published in European Journal of Human Genetics, January 2015
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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 (97th percentile)
  • High Attention Score compared to outputs of the same age and source (96th percentile)

Mentioned by

news
1 news outlet
blogs
2 blogs
policy
3 policy sources
twitter
36 tweeters
facebook
3 Facebook pages

Citations

dimensions_citation
56 Dimensions

Readers on

mendeley
179 Mendeley
citeulike
2 CiteULike
Title
Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes
Published in
European Journal of Human Genetics, January 2015
DOI 10.1038/ejhg.2014.289
Pubmed ID
Authors

Heidi Carmen Howard, Bartha Maria Knoppers, Martina C Cornel, Ellen Wright Clayton, Karine Sénécal, Pascal Borry

Abstract

The advent and refinement of sequencing technologies has resulted in a decrease in both the cost and time needed to generate data on the entire sequence of the human genome. This has increased the accessibility of using whole-genome sequencing and whole-exome sequencing approaches for analysis in both the research and clinical contexts. The expectation is that more services based on these and other high-throughput technologies will become available to patients and the wider population. Some authors predict that sequencing will be performed once in a lifetime, namely, shortly after birth. The Public and Professional Policy Committee of the European Society of Human Genetics, the Human Genome Organisation Committee on Ethics, Law and Society, the PHG Foundation and the P3G International Paediatric Platform address herein the important issues and challenges surrounding the potential use of sequencing technologies in publicly funded newborn screening (NBS) programmes. This statement presents the relevant issues and culminates in a set of recommendations to help inform and guide scientists and clinicians, as well as policy makers regarding the necessary considerations for the use of genome sequencing technologies and approaches in NBS programmes. The primary objective of NBS should be the targeted analysis and identification of gene variants conferring a high risk of preventable or treatable conditions, for which treatment has to start in the newborn period or in early childhood.European Journal of Human Genetics advance online publication, 28 January 2015; doi:10.1038/ejhg.2014.289.

Twitter Demographics

The data shown below were collected from the profiles of 36 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 179 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 2 1%
South Africa 2 1%
Italy 1 <1%
United Kingdom 1 <1%
France 1 <1%
Unknown 172 96%

Demographic breakdown

Readers by professional status Count As %
Student > Master 38 21%
Student > Bachelor 37 21%
Researcher 27 15%
Other 24 13%
Student > Ph. D. Student 15 8%
Other 21 12%
Unknown 17 9%
Readers by discipline Count As %
Medicine and Dentistry 51 28%
Agricultural and Biological Sciences 36 20%
Biochemistry, Genetics and Molecular Biology 32 18%
Social Sciences 11 6%
Nursing and Health Professions 7 4%
Other 25 14%
Unknown 17 9%

Attention Score in Context

This research output has an Altmetric Attention Score of 52. 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 February 2019.
All research outputs
#496,510
of 17,355,315 outputs
Outputs from European Journal of Human Genetics
#60
of 2,965 outputs
Outputs of similar age
#8,807
of 295,351 outputs
Outputs of similar age from European Journal of Human Genetics
#3
of 51 outputs
Altmetric has tracked 17,355,315 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 97th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,965 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.5. This one has done particularly well, scoring higher than 97% 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 295,351 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 97% of its contemporaries.
We're also able to compare this research output to 51 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 96% of its contemporaries.