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The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results

Overview of attention for article published in Genetics in Medicine, March 2017
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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 (92nd percentile)
  • Good Attention Score compared to outputs of the same age and source (75th percentile)

Mentioned by

twitter
51 tweeters
facebook
3 Facebook pages

Citations

dimensions_citation
46 Dimensions

Readers on

mendeley
72 Mendeley
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1 CiteULike
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Title
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results
Published in
Genetics in Medicine, March 2017
DOI 10.1038/gim.2016.224
Pubmed ID
Authors

Dustin Baldridge, Jennifer Heeley, Marisa Vineyard, Linda Manwaring, Tomi L. Toler, Emily Fassi, Elise Fiala, Sarah Brown, Charles W. Goss, Marcia Willing, Dorothy K. Grange, Beth A. Kozel, Marwan Shinawi

Abstract

Evaluation of the clinician's role in the optimal interpretation of clinical exome sequencing (ES) results. Retrospective chart review of the first 155 patients who underwent clinical ES in our Exome Clinic and direct interaction with the ordering geneticist to evaluate the process of interpretation of results. The most common primary indication was neurodevelopmental problems (~66%), followed by multiple congenital anomalies (~10%). Based on sequencing data, the overall diagnostic yield was 36%. After assessment by the medical geneticist, incorporation of detailed phenotypic and molecular data, and utilization of additional diagnostic modalities, the final diagnostic yield increased to 43%. Seven patients in our cohort were included in initial case series that described novel genetic syndromes, and 23% of patients were involved in subsequent research studies directly related to their results or involved in efforts to move beyond clinical ES for diagnosis. Clinical management was directly altered due to the ES findings in 12% of definitively diagnosed cases. Our results emphasize the usefulness of ES, demonstrate the significant role of the medical geneticist in the diagnostic process of patients undergoing ES, and illustrate the benefits of postanalytical diagnostic work-up in solving the "diagnostic odyssey." Genet Med advance online publication 02 March 2017Genetics in Medicine (2017); doi:10.1038/gim.2016.224.

Twitter Demographics

The data shown below were collected from the profiles of 51 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 72 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 72 100%

Demographic breakdown

Readers by professional status Count As %
Other 13 18%
Student > Ph. D. Student 13 18%
Researcher 12 17%
Student > Master 9 13%
Student > Bachelor 5 7%
Other 8 11%
Unknown 12 17%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 20 28%
Medicine and Dentistry 18 25%
Agricultural and Biological Sciences 10 14%
Neuroscience 2 3%
Social Sciences 2 3%
Other 5 7%
Unknown 15 21%

Attention Score in Context

This research output has an Altmetric Attention Score of 31. 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 31 July 2020.
All research outputs
#746,796
of 16,699,900 outputs
Outputs from Genetics in Medicine
#280
of 2,264 outputs
Outputs of similar age
#20,757
of 264,750 outputs
Outputs of similar age from Genetics in Medicine
#12
of 44 outputs
Altmetric has tracked 16,699,900 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 2,264 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 17.3. This one has done well, scoring higher than 87% 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 264,750 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 92% of its contemporaries.
We're also able to compare this research output to 44 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 75% of its contemporaries.