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Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors

Overview of attention for article published in Nature Communications, November 2017
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  • In the top 5% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (99th percentile)
  • High Attention Score compared to outputs of the same age and source (96th percentile)

Mentioned by

news
16 news outlets
blogs
2 blogs
twitter
221 X users
patent
16 patents
facebook
3 Facebook pages
googleplus
1 Google+ user

Citations

dimensions_citation
629 Dimensions

Readers on

mendeley
711 Mendeley
citeulike
1 CiteULike
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Title
Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors
Published in
Nature Communications, November 2017
DOI 10.1038/s41467-017-00965-y
Pubmed ID
Authors

Viktor A. Adalsteinsson, Gavin Ha, Samuel S. Freeman, Atish D. Choudhury, Daniel G. Stover, Heather A. Parsons, Gregory Gydush, Sarah C. Reed, Denisse Rotem, Justin Rhoades, Denis Loginov, Dimitri Livitz, Daniel Rosebrock, Ignaty Leshchiner, Jaegil Kim, Chip Stewart, Mara Rosenberg, Joshua M. Francis, Cheng-Zhong Zhang, Ofir Cohen, Coyin Oh, Huiming Ding, Paz Polak, Max Lloyd, Sairah Mahmud, Karla Helvie, Margaret S. Merrill, Rebecca A. Santiago, Edward P. O’Connor, Seong H. Jeong, Rachel Leeson, Rachel M. Barry, Joseph F. Kramkowski, Zhenwei Zhang, Laura Polacek, Jens G. Lohr, Molly Schleicher, Emily Lipscomb, Andrea Saltzman, Nelly M. Oliver, Lori Marini, Adrienne G. Waks, Lauren C. Harshman, Sara M. Tolaney, Eliezer M. Van Allen, Eric P. Winer, Nancy U. Lin, Mari Nakabayashi, Mary-Ellen Taplin, Cory M. Johannessen, Levi A. Garraway, Todd R. Golub, Jesse S. Boehm, Nikhil Wagle, Gad Getz, J. Christopher Love, Matthew Meyerson

Abstract

Whole-exome sequencing of cell-free DNA (cfDNA) could enable comprehensive profiling of tumors from blood but the genome-wide concordance between cfDNA and tumor biopsies is uncertain. Here we report ichorCNA, software that quantifies tumor content in cfDNA from 0.1× coverage whole-genome sequencing data without prior knowledge of tumor mutations. We apply ichorCNA to 1439 blood samples from 520 patients with metastatic prostate or breast cancers. In the earliest tested sample for each patient, 34% of patients have ≥10% tumor-derived cfDNA, sufficient for standard coverage whole-exome sequencing. Using whole-exome sequencing, we validate the concordance of clonal somatic mutations (88%), copy number alterations (80%), mutational signatures, and neoantigens between cfDNA and matched tumor biopsies from 41 patients with ≥10% cfDNA tumor content. In summary, we provide methods to identify patients eligible for comprehensive cfDNA profiling, revealing its applicability to many patients, and demonstrate high concordance of cfDNA and metastatic tumor whole-exome sequencing.

X Demographics

X Demographics

The data shown below were collected from the profiles of 221 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 711 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 711 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 163 23%
Student > Ph. D. Student 111 16%
Student > Master 57 8%
Other 48 7%
Student > Bachelor 46 6%
Other 89 13%
Unknown 197 28%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 172 24%
Medicine and Dentistry 127 18%
Agricultural and Biological Sciences 85 12%
Computer Science 25 4%
Engineering 14 2%
Other 67 9%
Unknown 221 31%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 250. 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 February 2024.
All research outputs
#152,552
of 25,890,819 outputs
Outputs from Nature Communications
#2,191
of 58,915 outputs
Outputs of similar age
#3,128
of 345,525 outputs
Outputs of similar age from Nature Communications
#49
of 1,524 outputs
Altmetric has tracked 25,890,819 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 58,915 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 55.3. This one has done particularly well, scoring higher than 96% 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 345,525 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 1,524 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 96% of its contemporaries.