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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

Overview of attention for article published in Genome Biology (Online Edition), June 2015
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (91st percentile)

Mentioned by

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32 tweeters
googleplus
1 Google+ user

Citations

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144 Dimensions

Readers on

mendeley
198 Mendeley
citeulike
2 CiteULike
Title
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases
Published in
Genome Biology (Online Edition), June 2015
DOI 10.1186/s13059-015-0693-2
Pubmed ID
Abstract

To understand the contribution of Mendelian mutations to the burden of undiagnosed diseases that are suspected to be genetic in origin, we developed a next-generation sequencing-based multiplexing assay that encompasses the ~3,000 known Mendelian genes. This assay, which we term the Mendeliome, comprises 13 gene panels based on clinical themes, covering the spectrum of pediatric and adult clinical genetic medicine. We explore how these panels compare with clinical whole exome sequencing (WES). We tested 2,357 patients referred with suspected genetic diagnoses from virtually every medical specialty. A likely causal mutation was identified in 1,018 patients, with an overall clinical sensitivity of 43 %, comparing favorably with WES. Furthermore, the cost of clinical-grade WES is high (typically more than 4,500 US dollars), whereas the cost of running a sample on one of our panels is around 75-150 US dollars, depending on the panel. Of the "negative" cases, 11 % were subsequently found by WES to harbor a likely causal mutation in a known disease gene (largely in genes identified after the design of our assay), as inferred from a representative sample of 178. Although our study population is enriched for consanguinity, 245 (24 %) of solved cases were autosomal dominant and 35 (4 %) were X-linked, suggesting that our assay is likely applicable to outbred populations. Despite missing a significant number of cases, the current version of the Mendeliome assay can account for a large proportion of suspected genetic disorders, and provides significant practical advantages over clinical WES.

Twitter Demographics

The data shown below were collected from the profiles of 32 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 198 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 4 2%
Italy 2 1%
Germany 1 <1%
Sweden 1 <1%
South Africa 1 <1%
Netherlands 1 <1%
Saudi Arabia 1 <1%
United Kingdom 1 <1%
Greece 1 <1%
Other 1 <1%
Unknown 184 93%

Demographic breakdown

Readers by professional status Count As %
Researcher 44 22%
Student > Ph. D. Student 34 17%
Student > Master 26 13%
Other 18 9%
Student > Bachelor 12 6%
Other 41 21%
Unknown 23 12%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 60 30%
Agricultural and Biological Sciences 50 25%
Medicine and Dentistry 32 16%
Nursing and Health Professions 4 2%
Computer Science 4 2%
Other 15 8%
Unknown 33 17%

Attention Score in Context

This research output has an Altmetric Attention Score of 18. 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 03 April 2016.
All research outputs
#1,201,318
of 16,534,657 outputs
Outputs from Genome Biology (Online Edition)
#1,195
of 3,473 outputs
Outputs of similar age
#20,383
of 235,646 outputs
Outputs of similar age from Genome Biology (Online Edition)
#1
of 3 outputs
Altmetric has tracked 16,534,657 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 92nd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 3,473 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 25.6. This one has gotten more attention than average, scoring higher than 65% 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 235,646 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 91% of its contemporaries.
We're also able to compare this research output to 3 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them