↓ Skip to main content

Detection and Impact of Rare Regulatory Variants in Human Disease

Overview of attention for article published in Frontiers in Genetics, January 2013
Altmetric Badge

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 (79th percentile)
  • High Attention Score compared to outputs of the same age and source (80th percentile)

Mentioned by

blogs
1 blog

Citations

dimensions_citation
20 Dimensions

Readers on

mendeley
59 Mendeley
citeulike
1 CiteULike
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
Title
Detection and Impact of Rare Regulatory Variants in Human Disease
Published in
Frontiers in Genetics, January 2013
DOI 10.3389/fgene.2013.00067
Pubmed ID
Authors

Xin Li, Stephen B. Montgomery

Abstract

Advances in genome sequencing are providing unprecedented resolution of rare and private variants. However, methods which assess the effect of these variants have relied predominantly on information within coding sequences. Assessing their impact in non-coding sequences remains a significant contemporary challenge. In this review, we highlight the role of regulatory variation as causative agents and modifiers of monogenic disorders. We further discuss how advances in functional genomics are now providing new opportunity to assess the impact of rare non-coding variants and their role in disease.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 59 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 1 2%
Netherlands 1 2%
Sweden 1 2%
Brazil 1 2%
Unknown 55 93%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 21 36%
Researcher 9 15%
Student > Master 7 12%
Student > Bachelor 3 5%
Professor > Associate Professor 3 5%
Other 7 12%
Unknown 9 15%
Readers by discipline Count As %
Agricultural and Biological Sciences 26 44%
Biochemistry, Genetics and Molecular Biology 9 15%
Medicine and Dentistry 6 10%
Computer Science 5 8%
Nursing and Health Professions 1 2%
Other 4 7%
Unknown 8 14%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 6. 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 June 2013.
All research outputs
#5,418,542
of 22,721,584 outputs
Outputs from Frontiers in Genetics
#1,495
of 11,757 outputs
Outputs of similar age
#56,694
of 280,761 outputs
Outputs of similar age from Frontiers in Genetics
#61
of 319 outputs
Altmetric has tracked 22,721,584 research outputs across all sources so far. Compared to these this one has done well and is in the 76th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 11,757 research outputs from this source. They receive a mean Attention Score of 3.7. 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 280,761 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 79% of its contemporaries.
We're also able to compare this research output to 319 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.