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Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing

Overview of attention for article published in Genetics in Medicine, May 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 (95th percentile)
  • High Attention Score compared to outputs of the same age and source (88th percentile)

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Title
Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing
Published in
Genetics in Medicine, May 2017
DOI 10.1038/gim.2017.40
Pubmed ID
Authors

Christopher M Haggerty, Cynthia A James, Hugh Calkins, Crystal Tichnell, Joseph B Leader, Dustin N Hartzel, Christopher D Nevius, Sarah A Pendergrass, Thomas N Person, Marci Schwartz, Marylyn D Ritchie, David J Carey, David H Ledbetter, Marc S Williams, Frederick E Dewey, Alexander Lopez, John Penn, John D Overton, Jeffrey G Reid, Matthew Lebo, Heather Mason-Suares, Christina Austin-Tse, Heidi L Rehm, Brian P Delisle, Daniel J Makowski, Vishal C Mehra, Michael F Murray, Brandon K Fornwalt

Abstract

PurposeArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart disease. Clinical follow-up of incidental findings in ARVC-associated genes is recommended. We aimed to determine the prevalence of disease thus ascertained.MethodsIndividuals (n = 30,716) underwent exome sequencing. Variants in PKP2, DSG2, DSC2, DSP, JUP, TMEM43, or TGFβ3 that were database-listed as pathogenic or likely pathogenic were identified and evidence-reviewed. For subjects with putative loss-of-function (pLOF) variants or variants of uncertain significance (VUS), electronic health records (EHR) were reviewed for ARVC diagnosis, diagnostic criteria, and International Classification of Diseases (ICD-9) codes.ResultsEighteen subjects had pLOF variants; none of these had an EHR diagnosis of ARVC. Of 14 patients with an electrocardiogram, one had a minor diagnostic criterion; the rest were normal. A total of 184 subjects had VUS, none of whom had an ARVC diagnosis. The proportion of subjects with VUS with major (4%) or minor (13%) electrocardiogram diagnostic criteria did not differ from that of variant-negative controls. ICD-9 codes showed no difference in defibrillator use, electrophysiologic abnormalities or nonischemic cardiomyopathies in patients with pLOF or VUSs compared with controls.ConclusionpLOF variants in an unselected cohort were not associated with ARVC phenotypes based on EHR review. The negative predictive value of EHR review remains uncertain.GENETICS in MEDICINE advance online publication, 4 May 2017; doi:10.1038/gim.2017.40.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 55 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 55 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 13 24%
Other 9 16%
Student > Ph. D. Student 8 15%
Student > Bachelor 5 9%
Student > Doctoral Student 3 5%
Other 6 11%
Unknown 11 20%
Readers by discipline Count As %
Medicine and Dentistry 21 38%
Biochemistry, Genetics and Molecular Biology 10 18%
Agricultural and Biological Sciences 7 13%
Computer Science 1 2%
Business, Management and Accounting 1 2%
Other 2 4%
Unknown 13 24%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 60. 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 04 September 2019.
All research outputs
#713,497
of 25,382,440 outputs
Outputs from Genetics in Medicine
#188
of 2,945 outputs
Outputs of similar age
#14,629
of 324,351 outputs
Outputs of similar age from Genetics in Medicine
#6
of 50 outputs
Altmetric has tracked 25,382,440 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 2,945 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 particularly well, scoring higher than 93% 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 324,351 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 95% of its contemporaries.
We're also able to compare this research output to 50 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 88% of its contemporaries.