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Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications

Overview of attention for article published in Human Mutation, February 2017
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (85th percentile)
  • High Attention Score compared to outputs of the same age and source (92nd percentile)

Mentioned by

news
1 news outlet
twitter
7 tweeters
facebook
2 Facebook pages
video
1 video uploader

Citations

dimensions_citation
45 Dimensions

Readers on

mendeley
63 Mendeley
citeulike
1 CiteULike
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Title
Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications
Published in
Human Mutation, February 2017
DOI 10.1002/humu.23183
Pubmed ID
Authors

Erica D. Smith, Kelly Radtke, Mari Rossi, Deepali N. Shinde, Sourat Darabi, Dima El-Khechen, Zöe Powis, Katherine Helbig, Kendra Waller, Dorothy K. Grange, Sha Tang, Kelly D. Farwell Hagman

Abstract

Ascertaining a diagnosis through exome sequencing can provide potential benefits to patients, insurance companies, and the healthcare system. Yet as diagnostic sequencing is increasingly employed, vast amounts of human genetic data are produced that need careful curation. We discuss methods for accurately assessing the clinical validity of gene-disease relationships to interpret new research findings in a clinical context and increase the diagnostic rate. The specifics of a gene-disease scoring system adapted for use in a clinical laboratory are described. In turn, clinical validity scoring of gene-disease relationships can inform exome reporting for identification of new or upgrading of previous, clinically relevant gene findings. Our retrospective analysis of all reclassification reports from the first four years of diagnostic exome sequencing showed that 78% were due to new gene disease discoveries published in the literature. Among all exome positive/likely positive findings in characterized genes, 32% were in genetic etiologies that were discovered after 2010. Our data underscore the importance and benefits of active and up-to-date curation of the gene-disease database combined with critical clinical validity scoring and proactive reanalysis in the clinical genomics era. This article is protected by copyright. All rights reserved.

Twitter Demographics

The data shown below were collected from the profiles of 7 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 63 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 63 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 17 27%
Student > Ph. D. Student 11 17%
Other 9 14%
Student > Master 5 8%
Student > Doctoral Student 3 5%
Other 7 11%
Unknown 11 17%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 24 38%
Medicine and Dentistry 12 19%
Agricultural and Biological Sciences 5 8%
Neuroscience 2 3%
Psychology 1 2%
Other 4 6%
Unknown 15 24%

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 06 January 2021.
All research outputs
#1,520,987
of 16,607,885 outputs
Outputs from Human Mutation
#96
of 2,467 outputs
Outputs of similar age
#37,851
of 264,063 outputs
Outputs of similar age from Human Mutation
#3
of 25 outputs
Altmetric has tracked 16,607,885 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 2,467 research outputs from this source. They receive a mean Attention Score of 4.2. 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 264,063 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 85% of its contemporaries.
We're also able to compare this research output to 25 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 92% of its contemporaries.