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Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome

Overview of attention for article published in Nature Communications, September 2018
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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 (96th percentile)
  • High Attention Score compared to outputs of the same age and source (81st percentile)

Mentioned by

news
3 news outlets
blogs
1 blog
twitter
70 X users
wikipedia
1 Wikipedia page

Citations

dimensions_citation
151 Dimensions

Readers on

mendeley
241 Mendeley
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Title
Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome
Published in
Nature Communications, September 2018
DOI 10.1038/s41467-018-06485-7
Pubmed ID
Authors

Michael Rusch, Joy Nakitandwe, Sheila Shurtleff, Scott Newman, Zhaojie Zhang, Michael N. Edmonson, Matthew Parker, Yuannian Jiao, Xiaotu Ma, Yanling Liu, Jiali Gu, Michael F. Walsh, Jared Becksfort, Andrew Thrasher, Yongjin Li, James McMurry, Erin Hedlund, Aman Patel, John Easton, Donald Yergeau, Bhavin Vadodaria, Ruth G. Tatevossian, Susana Raimondi, Dale Hedges, Xiang Chen, Kohei Hagiwara, Rose McGee, Giles W. Robinson, Jeffery M. Klco, Tanja A. Gruber, David W. Ellison, James R Downing, Jinghui Zhang

Abstract

To evaluate the potential of an integrated clinical test to detect diverse classes of somatic and germline mutations relevant to pediatric oncology, we performed three-platform whole-genome (WGS), whole exome (WES) and transcriptome (RNA-Seq) sequencing of tumors and normal tissue from 78 pediatric cancer patients in a CLIA-certified, CAP-accredited laboratory. Our analysis pipeline achieves high accuracy by cross-validating variants between sequencing types, thereby removing the need for confirmatory testing, and facilitates comprehensive reporting in a clinically-relevant timeframe. Three-platform sequencing has a positive predictive value of 97-99, 99, and 91% for somatic SNVs, indels and structural variations, respectively, based on independent experimental verification of 15,225 variants. We report 240 pathogenic variants across all cases, including 84 of 86 known from previous diagnostic testing (98% sensitivity). Combined WES and RNA-Seq, the current standard for precision oncology, achieved only 78% sensitivity. These results emphasize the critical need for incorporating WGS in pediatric oncology testing.

X Demographics

X Demographics

The data shown below were collected from the profiles of 70 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 241 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 241 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 57 24%
Student > Ph. D. Student 30 12%
Student > Master 29 12%
Student > Bachelor 23 10%
Other 10 4%
Other 26 11%
Unknown 66 27%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 66 27%
Agricultural and Biological Sciences 38 16%
Medicine and Dentistry 29 12%
Computer Science 8 3%
Engineering 4 2%
Other 20 8%
Unknown 76 32%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 69. 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 14 June 2022.
All research outputs
#614,283
of 25,257,066 outputs
Outputs from Nature Communications
#10,622
of 55,941 outputs
Outputs of similar age
#13,303
of 348,299 outputs
Outputs of similar age from Nature Communications
#269
of 1,451 outputs
Altmetric has tracked 25,257,066 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 55,941 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 55.8. This one has done well, scoring higher than 81% 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 348,299 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 96% of its contemporaries.
We're also able to compare this research output to 1,451 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 81% of its contemporaries.