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Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

Overview of attention for article published in European Journal of Human Genetics, February 2018
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (90th percentile)
  • High Attention Score compared to outputs of the same age and source (92nd percentile)

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Title
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing
Published in
European Journal of Human Genetics, February 2018
DOI 10.1038/s41431-018-0114-6
Pubmed ID
Authors

Gregory Costain, Rebekah Jobling, Susan Walker, Miriam S. Reuter, Meaghan Snell, Sarah Bowdin, Ronald D. Cohn, Lucie Dupuis, Stacy Hewson, Saadet Mercimek-Andrews, Cheryl Shuman, Neal Sondheimer, Rosanna Weksberg, Grace Yoon, M. Stephen Meyn, Dimitri J. Stavropoulos, Stephen W. Scherer, Roberto Mendoza-Londono, Christian R. Marshall

Abstract

Whole-genome sequencing (WGS) as a first-tier diagnostic test could transform medical genetic assessments, but there are limited data regarding its clinical use. We previously showed that WGS could feasibly be deployed as a single molecular test capable of a higher diagnostic rate than current practices, in a prospectively recruited cohort of 100 children meeting criteria for chromosomal microarray analysis. In this study, we report on the added diagnostic yield with re-annotation and reanalysis of these WGS data ~2 years later. Explanatory variants have been discovered in seven (10.9%) of 64 previously undiagnosed cases, in emerging disease genes like HMGA2. No new genetic diagnoses were made by any other method in the interval period as part of ongoing clinical care. The results increase the cumulative diagnostic yield of WGS in the study cohort to 41%. This represents a greater than 5-fold increase over the chromosomal microarrays, and a greater than 3-fold increase over all the clinical genetic testing ordered in practice. These findings highlight periodic reanalysis as yet another advantage of genomic sequencing in heterogeneous disorders. We recommend reanalysis of an individual's genome-wide sequencing data every 1-2 years until diagnosis, or sooner if their phenotype evolves.

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X Demographics

The data shown below were collected from the profiles of 38 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 137 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 137 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 24 18%
Student > Master 18 13%
Student > Ph. D. Student 16 12%
Other 15 11%
Student > Bachelor 11 8%
Other 20 15%
Unknown 33 24%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 43 31%
Medicine and Dentistry 26 19%
Agricultural and Biological Sciences 17 12%
Computer Science 4 3%
Neuroscience 3 2%
Other 6 4%
Unknown 38 28%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 27. 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 13 March 2020.
All research outputs
#1,438,288
of 25,556,408 outputs
Outputs from European Journal of Human Genetics
#208
of 3,715 outputs
Outputs of similar age
#31,913
of 350,751 outputs
Outputs of similar age from European Journal of Human Genetics
#6
of 71 outputs
Altmetric has tracked 25,556,408 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 94th percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 3,715 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 10.5. This one has done particularly well, scoring higher than 94% 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 350,751 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 90% of its contemporaries.
We're also able to compare this research output to 71 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.