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A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases

Overview of attention for article published in Genome Medicine, September 2015
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About this Attention Score

  • In the top 5% of all research outputs scored by Altmetric
  • One of the highest-scoring outputs from this source (#4 of 1,258)
  • High Attention Score compared to outputs of the same age (99th percentile)

Mentioned by

news
74 news outlets
blogs
5 blogs
twitter
174 tweeters
patent
3 patents
facebook
1 Facebook page
googleplus
1 Google+ user
reddit
1 Redditor

Citations

dimensions_citation
167 Dimensions

Readers on

mendeley
195 Mendeley
citeulike
1 CiteULike
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Title
A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases
Published in
Genome Medicine, September 2015
DOI 10.1186/s13073-015-0221-8
Pubmed ID
Authors

Neil A. Miller, Emily G. Farrow, Margaret Gibson, Laurel K. Willig, Greyson Twist, Byunggil Yoo, Tyler Marrs, Shane Corder, Lisa Krivohlavek, Adam Walter, Josh E. Petrikin, Carol J. Saunders, Isabelle Thiffault, Sarah E. Soden, Laurie D. Smith, Darrell L. Dinwiddie, Suzanne Herd, Julie A. Cakici, Severine Catreux, Mike Ruehle, Stephen F. Kingsmore

Abstract

While the cost of whole genome sequencing (WGS) is approaching the realm of routine medical tests, it remains too tardy to help guide the management of many acute medical conditions. Rapid WGS is imperative in light of growing evidence of its utility in acute care, such as in diagnosis of genetic diseases in very ill infants, and genotype-guided choice of chemotherapy at cancer relapse. In such situations, delayed, empiric, or phenotype-based clinical decisions may meet with substantial morbidity or mortality. We previously described a rapid WGS method, STATseq, with a sensitivity of >96 % for nucleotide variants that allowed a provisional diagnosis of a genetic disease in 50 h. Here improvements in sequencing run time, read alignment, and variant calling are described that enable 26-h time to provisional molecular diagnosis with >99.5 % sensitivity and specificity of genotypes. STATseq appears to be an appropriate strategy for acutely ill patients with potentially actionable genetic diseases.

Twitter Demographics

The data shown below were collected from the profiles of 174 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 195 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 5 3%
United Kingdom 4 2%
Netherlands 1 <1%
Japan 1 <1%
Italy 1 <1%
Luxembourg 1 <1%
Unknown 182 93%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 46 24%
Researcher 45 23%
Student > Master 25 13%
Other 21 11%
Student > Bachelor 12 6%
Other 26 13%
Unknown 20 10%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 53 27%
Agricultural and Biological Sciences 48 25%
Medicine and Dentistry 26 13%
Computer Science 17 9%
Engineering 7 4%
Other 17 9%
Unknown 27 14%

Attention Score in Context

This research output has an Altmetric Attention Score of 716. 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 05 November 2020.
All research outputs
#16,820
of 18,953,852 outputs
Outputs from Genome Medicine
#4
of 1,258 outputs
Outputs of similar age
#202
of 259,030 outputs
Outputs of similar age from Genome Medicine
#1
of 3 outputs
Altmetric has tracked 18,953,852 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 99th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,258 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 23.3. This one has done particularly well, scoring higher than 99% 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 259,030 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 99% 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