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Exome sequencing as a tool for Mendelian disease gene discovery

Overview of attention for article published in Nature Reviews Genetics, September 2011
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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 (97th percentile)
  • High Attention Score compared to outputs of the same age and source (92nd percentile)

Mentioned by

blogs
4 blogs
twitter
18 X users
patent
32 patents
wikipedia
9 Wikipedia pages
f1000
1 research highlight platform

Citations

dimensions_citation
1455 Dimensions

Readers on

mendeley
2338 Mendeley
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29 CiteULike
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Title
Exome sequencing as a tool for Mendelian disease gene discovery
Published in
Nature Reviews Genetics, September 2011
DOI 10.1038/nrg3031
Pubmed ID
Authors

Michael J. Bamshad, Sarah B. Ng, Abigail W. Bigham, Holly K. Tabor, Mary J. Emond, Deborah A. Nickerson, Jay Shendure

Abstract

Exome sequencing - the targeted sequencing of the subset of the human genome that is protein coding - is a powerful and cost-effective new tool for dissecting the genetic basis of diseases and traits that have proved to be intractable to conventional gene-discovery strategies. Over the past 2 years, experimental and analytical approaches relating to exome sequencing have established a rich framework for discovering the genes underlying unsolved Mendelian disorders. Additionally, exome sequencing is being adapted to explore the extent to which rare alleles explain the heritability of complex diseases and health-related traits. These advances also set the stage for applying exome and whole-genome sequencing to facilitate clinical diagnosis and personalized disease-risk profiling.

X Demographics

X Demographics

The data shown below were collected from the profiles of 18 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 2,338 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 39 2%
United Kingdom 16 <1%
Germany 13 <1%
Brazil 9 <1%
Korea, Republic of 6 <1%
Canada 6 <1%
Spain 5 <1%
India 5 <1%
Italy 5 <1%
Other 50 2%
Unknown 2184 93%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 536 23%
Researcher 450 19%
Student > Master 310 13%
Student > Bachelor 241 10%
Student > Postgraduate 117 5%
Other 433 19%
Unknown 251 11%
Readers by discipline Count As %
Agricultural and Biological Sciences 892 38%
Biochemistry, Genetics and Molecular Biology 500 21%
Medicine and Dentistry 362 15%
Computer Science 81 3%
Neuroscience 47 2%
Other 164 7%
Unknown 292 12%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 49. 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 19 March 2024.
All research outputs
#878,187
of 25,837,817 outputs
Outputs from Nature Reviews Genetics
#470
of 2,745 outputs
Outputs of similar age
#3,456
of 144,787 outputs
Outputs of similar age from Nature Reviews Genetics
#3
of 40 outputs
Altmetric has tracked 25,837,817 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 2,745 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 32.6. This one has done well, scoring higher than 82% 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 144,787 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 97% of its contemporaries.
We're also able to compare this research output to 40 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.