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Guidelines for diagnostic next-generation sequencing

Overview of attention for article published in European Journal of Human Genetics, October 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 (93rd percentile)
  • High Attention Score compared to outputs of the same age and source (94th percentile)

Mentioned by

policy
1 policy source
twitter
33 tweeters
patent
1 patent
facebook
3 Facebook pages

Citations

dimensions_citation
280 Dimensions

Readers on

mendeley
656 Mendeley
citeulike
3 CiteULike
Title
Guidelines for diagnostic next-generation sequencing
Published in
European Journal of Human Genetics, October 2015
DOI 10.1038/ejhg.2015.226
Pubmed ID
Authors

Gert Matthijs, Erika Souche, Mariëlle Alders, Anniek Corveleyn, Sebastian Eck, Ilse Feenstra, Valérie Race, Erik Sistermans, Marc Sturm, Marjan Weiss, Helger Yntema, Egbert Bakker, Hans Scheffer, Peter Bauer

Abstract

We present, on behalf of EuroGentest and the European Society of Human Genetics, guidelines for the evaluation and validation of next-generation sequencing (NGS) applications for the diagnosis of genetic disorders. The work was performed by a group of laboratory geneticists and bioinformaticians, and discussed with clinical geneticists, industry and patients' representatives, and other stakeholders in the field of human genetics. The statements that were written during the elaboration of the guidelines are presented here. The background document and full guidelines are available as supplementary material. They include many examples to assist the laboratories in the implementation of NGS and accreditation of this service. The work and ideas presented by others in guidelines that have emerged elsewhere in the course of the past few years were also considered and are acknowledged in the full text. Interestingly, a few new insights that have not been cited before have emerged during the preparation of the guidelines. The most important new feature is the presentation of a 'rating system' for NGS-based diagnostic tests. The guidelines and statements have been applauded by the genetic diagnostic community, and thus seem to be valuable for the harmonization and quality assurance of NGS diagnostics in Europe.European Journal of Human Genetics advance online publication, 28 October 2015; doi:10.1038/ejhg.2015.226.

Twitter Demographics

The data shown below were collected from the profiles of 33 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 656 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 5 <1%
Brazil 4 <1%
South Africa 3 <1%
Norway 2 <1%
Netherlands 2 <1%
Spain 2 <1%
Italy 2 <1%
Germany 1 <1%
Finland 1 <1%
Other 5 <1%
Unknown 629 96%

Demographic breakdown

Readers by professional status Count As %
Researcher 150 23%
Student > Ph. D. Student 89 14%
Other 86 13%
Student > Master 81 12%
Student > Bachelor 58 9%
Other 98 15%
Unknown 94 14%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 202 31%
Agricultural and Biological Sciences 147 22%
Medicine and Dentistry 109 17%
Computer Science 16 2%
Immunology and Microbiology 16 2%
Other 50 8%
Unknown 116 18%

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 02 October 2019.
All research outputs
#840,244
of 17,391,055 outputs
Outputs from European Journal of Human Genetics
#122
of 2,967 outputs
Outputs of similar age
#18,855
of 291,039 outputs
Outputs of similar age from European Journal of Human Genetics
#6
of 86 outputs
Altmetric has tracked 17,391,055 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 2,967 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 95% 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 291,039 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 86 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 94% of its contemporaries.