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Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing

Overview of attention for article published in Clinical Epigenetics, October 2014
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • Good Attention Score compared to outputs of the same age (77th percentile)
  • Good Attention Score compared to outputs of the same age and source (70th percentile)

Mentioned by

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8 tweeters

Citations

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33 Dimensions

Readers on

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38 Mendeley
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Title
Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing
Published in
Clinical Epigenetics, October 2014
DOI 10.1186/1868-7083-6-23
Pubmed ID
Authors

Takako I Jones, Chi Yan, Peter C Sapp, Diane McKenna-Yasek, Peter B Kang, Colin Quinn, Johnny S Salameh, Oliver D King, Peter L Jones

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is linked to chromatin relaxation due to epigenetic changes at the 4q35 D4Z4 macrosatellite array. Molecular diagnostic criteria for FSHD are complex and involve analysis of high molecular weight (HMW) genomic DNA isolated from lymphocytes, followed by multiple restriction digestions, pulse-field gel electrophoresis (PFGE), and Southern blotting. A subject is genetically diagnosed as FSHD1 if one of the 4q alleles shows a contraction in the D4Z4 array to below 11 repeats, while maintaining at least 1 repeat, and the contraction is in cis with a disease-permissive A-type subtelomere. FSHD2 is contraction-independent and cannot be diagnosed or excluded by this common genetic diagnostic procedure. However, FSHD1 and FSHD2 are linked by epigenetic deregulation, assayed as DNA hypomethylation, of the D4Z4 array on FSHD-permissive alleles. We have developed a PCR-based assay that identifies the epigenetic signature for both types of FSHD, distinguishing FSHD1 from FSHD2, and can be performed on genomic DNA isolated from blood, saliva, or cultured cells.

Twitter Demographics

The data shown below were collected from the profiles of 8 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 38 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Germany 1 3%
Unknown 37 97%

Demographic breakdown

Readers by professional status Count As %
Researcher 12 32%
Student > Ph. D. Student 8 21%
Student > Bachelor 7 18%
Student > Master 2 5%
Other 2 5%
Other 4 11%
Unknown 3 8%
Readers by discipline Count As %
Agricultural and Biological Sciences 13 34%
Biochemistry, Genetics and Molecular Biology 10 26%
Medicine and Dentistry 2 5%
Chemistry 2 5%
Economics, Econometrics and Finance 1 3%
Other 5 13%
Unknown 5 13%

Attention Score in Context

This research output has an Altmetric Attention Score of 5. 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 18 December 2014.
All research outputs
#3,010,498
of 12,434,754 outputs
Outputs from Clinical Epigenetics
#180
of 582 outputs
Outputs of similar age
#52,293
of 231,130 outputs
Outputs of similar age from Clinical Epigenetics
#7
of 24 outputs
Altmetric has tracked 12,434,754 research outputs across all sources so far. Compared to these this one has done well and is in the 75th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 582 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.6. This one has gotten more attention than average, scoring higher than 69% 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 231,130 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 77% of its contemporaries.
We're also able to compare this research output to 24 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 70% of its contemporaries.