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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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  • In the top 5% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (92nd percentile)
  • High Attention Score compared to outputs of the same age and source (80th percentile)

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1 policy source
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51 X users
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3 Facebook pages

Citations

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81 Dimensions

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99 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.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 99 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 99 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 16 16%
Other 15 15%
Student > Master 14 14%
Student > Ph. D. Student 14 14%
Student > Bachelor 8 8%
Other 12 12%
Unknown 20 20%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 25 25%
Medicine and Dentistry 24 24%
Agricultural and Biological Sciences 11 11%
Neuroscience 4 4%
Economics, Econometrics and Finance 2 2%
Other 9 9%
Unknown 24 24%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 34. 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 08 July 2021.
All research outputs
#1,174,617
of 25,394,764 outputs
Outputs from Genetics in Medicine
#356
of 2,945 outputs
Outputs of similar age
#23,631
of 324,066 outputs
Outputs of similar age from Genetics in Medicine
#8
of 42 outputs
Altmetric has tracked 25,394,764 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 2,945 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 19.0. 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 324,066 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 42 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 80% of its contemporaries.