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Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

Overview of attention for article published in Genome Medicine, June 2013
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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 (96th percentile)
  • High Attention Score compared to outputs of the same age and source (92nd percentile)

Mentioned by

news
3 news outlets
blogs
1 blog
twitter
22 X users
patent
1 patent
googleplus
1 Google+ user

Citations

dimensions_citation
131 Dimensions

Readers on

mendeley
110 Mendeley
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Title
Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy
Published in
Genome Medicine, June 2013
DOI 10.1186/gm461
Pubmed ID
Authors

James R Lupski, Claudia Gonzaga-Jauregui, Yaping Yang, Matthew N Bainbridge, Shalini Jhangiani, Christian J Buhay, Christie L Kovar, Min Wang, Alicia C Hawes, Jeffrey G Reid, Christine Eng, Donna M Muzny, Richard A Gibbs

Abstract

The debate regarding the relative merits of whole genome sequencing (WGS) versus exome sequencing (ES) centers around comparative cost, average depth of coverage for each interrogated base, and their relative efficiency in the identification of medically actionable variants from the myriad of variants identified by each approach. Nevertheless, few genomes have been subjected to both WGS and ES, using multiple next generation sequencing platforms. In addition, no personal genome has been so extensively analyzed using DNA derived from peripheral blood as opposed to DNA from transformed cell lines that may either accumulate mutations during propagation or clonally expand mosaic variants during cell transformation and propagation.

X Demographics

X Demographics

The data shown below were collected from the profiles of 22 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 110 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 3 3%
Germany 1 <1%
Norway 1 <1%
Hong Kong 1 <1%
Italy 1 <1%
China 1 <1%
United Kingdom 1 <1%
Unknown 101 92%

Demographic breakdown

Readers by professional status Count As %
Researcher 27 25%
Student > Ph. D. Student 16 15%
Other 15 14%
Student > Master 14 13%
Student > Bachelor 5 5%
Other 20 18%
Unknown 13 12%
Readers by discipline Count As %
Agricultural and Biological Sciences 44 40%
Biochemistry, Genetics and Molecular Biology 21 19%
Medicine and Dentistry 18 16%
Neuroscience 3 3%
Nursing and Health Professions 1 <1%
Other 4 4%
Unknown 19 17%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 43. 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 21 March 2018.
All research outputs
#947,126
of 25,076,138 outputs
Outputs from Genome Medicine
#185
of 1,546 outputs
Outputs of similar age
#7,501
of 202,132 outputs
Outputs of similar age from Genome Medicine
#2
of 14 outputs
Altmetric has tracked 25,076,138 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 96th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,546 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 27.2. This one has done well, scoring higher than 88% 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 202,132 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 96% of its contemporaries.
We're also able to compare this research output to 14 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.