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Genetic variation in human drug-related genes

Overview of attention for article published in Genome Medicine, December 2017
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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 (94th percentile)
  • High Attention Score compared to outputs of the same age and source (82nd percentile)

Mentioned by

news
3 news outlets
twitter
38 tweeters

Citations

dimensions_citation
67 Dimensions

Readers on

mendeley
161 Mendeley
citeulike
2 CiteULike
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Title
Genetic variation in human drug-related genes
Published in
Genome Medicine, December 2017
DOI 10.1186/s13073-017-0502-5
Pubmed ID
Authors

Charlotta Pauline Irmgard Schärfe, Roman Tremmel, Matthias Schwab, Oliver Kohlbacher, Debora Susan Marks

Abstract

Variability in drug efficacy and adverse effects are observed in clinical practice. While the extent of genetic variability in classic pharmacokinetic genes is rather well understood, the role of genetic variation in drug targets is typically less studied. Based on 60,706 human exomes from the ExAC dataset, we performed an in-depth computational analysis of the prevalence of functional variants in 806 drug-related genes, including 628 known drug targets. We further computed the likelihood of 1236 FDA-approved drugs to be affected by functional variants in their targets in the whole ExAC population as well as different geographic sub-populations. We find that most genetic variants in drug-related genes are very rare (f < 0.1%) and thus will likely not be observed in clinical trials. Furthermore, we show that patient risk varies for many drugs and with respect to geographic ancestry. A focused analysis of oncological drug targets indicates that the probability of a patient carrying germline variants in oncological drug targets is, at 44%, high enough to suggest that not only somatic alterations but also germline variants carried over into the tumor genome could affect the response to antineoplastic agents. This study indicates that even though many variants are very rare and thus likely not observed in clinical trials, four in five patients are likely to carry a variant with possibly functional effects in a target for commonly prescribed drugs. Such variants could potentially alter drug efficacy.

Twitter Demographics

The data shown below were collected from the profiles of 38 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 161 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Netherlands 1 <1%
Unknown 160 99%

Demographic breakdown

Readers by professional status Count As %
Researcher 34 21%
Student > Ph. D. Student 23 14%
Student > Master 20 12%
Student > Bachelor 20 12%
Student > Postgraduate 10 6%
Other 28 17%
Unknown 26 16%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 52 32%
Agricultural and Biological Sciences 24 15%
Pharmacology, Toxicology and Pharmaceutical Science 18 11%
Medicine and Dentistry 12 7%
Engineering 7 4%
Other 18 11%
Unknown 30 19%

Attention Score in Context

This research output has an Altmetric Attention Score of 44. 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 22 June 2021.
All research outputs
#738,485
of 21,448,133 outputs
Outputs from Genome Medicine
#140
of 1,363 outputs
Outputs of similar age
#22,529
of 442,488 outputs
Outputs of similar age from Genome Medicine
#19
of 100 outputs
Altmetric has tracked 21,448,133 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 1,363 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 24.9. This one has done well, scoring higher than 89% 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 442,488 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 94% of its contemporaries.
We're also able to compare this research output to 100 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 82% of its contemporaries.