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Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study

Overview of attention for article published in Genetics in Medicine, January 2017
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (81st percentile)
  • Above-average Attention Score compared to outputs of the same age and source (61st percentile)

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Citations

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47 Dimensions

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91 Mendeley
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Title
Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study
Published in
Genetics in Medicine, January 2017
DOI 10.1038/gim.2016.191
Pubmed ID
Authors

Arezou A. Ghazani, Nelly M. Oliver, Joseph P. St. Pierre, Andrea Garofalo, Irene R. Rainville, Elaine Hiller, Daniel J. Treacy, Vanesa Rojas-Rudilla, Sam Wood, Elizabeth Bair, Michael Parello, Franklin Huang, Marios Giannakis, Frederick H. Wilson, Elizabeth H. Stover, Steven M. Corsello, Tom Nguyen, Huma Q. Rana, Alanna J. Church, Carol Lowenstein, Carrie Cibulskis, Ali Amin-Mansour, Jennifer Heng, Lauren Brais, Abigail Santos, Patrick Bauer, Amanda Waldron, Peter Lo, Megan Gorman, Christine A. Lydon, Marisa Welch, Philip McNamara, Stacey Gabriel, Lynette M. Sholl, Neal I. Lindeman, Judy E. Garber, Steven Joffe, Eliezer M. Van Allen, Stacy W. Gray, Pasi A. Jänne, Levi A. Garraway, Nikhil Wagle

Abstract

Implementing cancer precision medicine in the clinic requires assessing the therapeutic relevance of genomic alterations. A main challenge is the systematic interpretation of whole-exome sequencing (WES) data for clinical care. One hundred sixty-five adults with metastatic colorectal and lung adenocarcinomas were prospectively enrolled in the CanSeq study. WES was performed on DNA extracted from formalin-fixed paraffin-embedded tumor biopsy samples and matched blood samples. Somatic and germ-line alterations were ranked according to therapeutic or clinical relevance. Results were interpreted using an integrated somatic and germ-line framework and returned in accordance with patient preferences. At the time of this analysis, WES had been performed and results returned to the clinical team for 165 participants. Of 768 curated somatic alterations, only 31% were associated with clinical evidence and 69% with preclinical or inferential evidence. Of 806 curated germ-line variants, 5% were clinically relevant and 56% were classified as variants of unknown significance. The variant review and decision-making processes were effective when the process was changed from that of a Molecular Tumor Board to a protocol-based approach. The development of novel interpretive and decision-support tools that draw from scientific and clinical evidence will be crucial for the success of cancer precision medicine in WES studies.Genet Med advance online publication 26 January 2017Genetics in Medicine (2017); doi:10.1038/gim.2016.191.

X Demographics

X Demographics

The data shown below were collected from the profiles of 15 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 91 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 91 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 21 23%
Student > Master 13 14%
Other 9 10%
Student > Ph. D. Student 7 8%
Student > Bachelor 6 7%
Other 17 19%
Unknown 18 20%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 22 24%
Medicine and Dentistry 22 24%
Agricultural and Biological Sciences 11 12%
Computer Science 3 3%
Sports and Recreations 2 2%
Other 8 9%
Unknown 23 25%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 9. 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 May 2018.
All research outputs
#4,229,987
of 25,377,790 outputs
Outputs from Genetics in Medicine
#1,295
of 2,944 outputs
Outputs of similar age
#77,947
of 422,426 outputs
Outputs of similar age from Genetics in Medicine
#14
of 36 outputs
Altmetric has tracked 25,377,790 research outputs across all sources so far. Compared to these this one has done well and is in the 83rd percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,944 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 19.0. This one has gotten more attention than average, scoring higher than 55% 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 422,426 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 81% of its contemporaries.
We're also able to compare this research output to 36 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 61% of its contemporaries.