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Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress

Overview of attention for article published in Genome Medicine, July 2012
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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 (98th percentile)
  • High Attention Score compared to outputs of the same age and source (90th percentile)

Mentioned by

news
4 news outlets
blogs
1 blog
twitter
21 tweeters
facebook
1 Facebook page
googleplus
1 Google+ user

Citations

dimensions_citation
62 Dimensions

Readers on

mendeley
184 Mendeley
citeulike
5 CiteULike
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Title
Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress
Published in
Genome Medicine, July 2012
DOI 10.1186/gm359
Pubmed ID
Authors

Gholson J Lyon, Kai Wang

Abstract

The pace of exome and genome sequencing is accelerating, with the identification of many new disease-causing mutations in research settings, and it is likely that whole exome or genome sequencing could have a major impact in the clinical arena in the relatively near future. However, the human genomics community is currently facing several challenges, including phenotyping, sample collection, sequencing strategies, bioinformatics analysis, biological validation of variant function, clinical interpretation and validity of variant data, and delivery of genomic information to various constituents. Here we review these challenges and summarize the bottlenecks for the clinical application of exome and genome sequencing, and we discuss ways for moving the field forward. In particular, we urge the need for clinical-grade sample collection, high-quality sequencing data acquisition, digitalized phenotyping, rigorous generation of variant calls, and comprehensive functional annotation of variants. Additionally, we suggest that a 'networking of science' model that encourages much more collaboration and online sharing of medical history, genomic data and biological knowledge, including among research participants and consumers/patients, will help establish causation and penetrance for disease causal variants and genes. As we enter this new era of genomic medicine, we envision that consumer-driven and consumer-oriented efforts will take center stage, thus allowing insights from the human genome project to translate directly back into individualized medicine.

Twitter Demographics

The data shown below were collected from the profiles of 21 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 184 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 7 4%
United Kingdom 4 2%
France 2 1%
Brazil 2 1%
Norway 1 <1%
Hong Kong 1 <1%
Australia 1 <1%
Italy 1 <1%
Sweden 1 <1%
Other 7 4%
Unknown 157 85%

Demographic breakdown

Readers by professional status Count As %
Researcher 53 29%
Student > Ph. D. Student 37 20%
Student > Master 20 11%
Other 18 10%
Student > Bachelor 12 7%
Other 28 15%
Unknown 16 9%
Readers by discipline Count As %
Agricultural and Biological Sciences 73 40%
Medicine and Dentistry 33 18%
Biochemistry, Genetics and Molecular Biology 32 17%
Computer Science 16 9%
Social Sciences 2 1%
Other 7 4%
Unknown 21 11%

Attention Score in Context

This research output has an Altmetric Attention Score of 56. 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 September 2018.
All research outputs
#577,682
of 21,334,388 outputs
Outputs from Genome Medicine
#106
of 1,355 outputs
Outputs of similar age
#2,901
of 142,719 outputs
Outputs of similar age from Genome Medicine
#2
of 11 outputs
Altmetric has tracked 21,334,388 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 97th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,355 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 23.9. This one has done particularly well, scoring higher than 92% 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 142,719 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 98% of its contemporaries.
We're also able to compare this research output to 11 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 90% of its contemporaries.