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Integrated analysis of germline and somatic variants in ovarian cancer

Overview of attention for article published in Nature Communications, January 2014
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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 (97th percentile)
  • Good Attention Score compared to outputs of the same age and source (78th percentile)

Mentioned by

news
4 news outlets
blogs
2 blogs
twitter
20 X users

Citations

dimensions_citation
247 Dimensions

Readers on

mendeley
363 Mendeley
citeulike
10 CiteULike
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Title
Integrated analysis of germline and somatic variants in ovarian cancer
Published in
Nature Communications, January 2014
DOI 10.1038/ncomms4156
Pubmed ID
Authors

Krishna L. Kanchi, Kimberly J. Johnson, Charles Lu, Michael D. McLellan, Mark D. M. Leiserson, Michael C. Wendl, Qunyuan Zhang, Daniel C. Koboldt, Mingchao Xie, Cyriac Kandoth, Joshua F. McMichael, Matthew A. Wyczalkowski, David E. Larson, Heather K. Schmidt, Christopher A. Miller, Robert S. Fulton, Paul T. Spellman, Elaine R. Mardis, Todd E. Druley, Timothy A. Graubert, Paul J. Goodfellow, Benjamin J. Raphael, Richard K. Wilson, Li Ding

Abstract

We report the first large-scale exome-wide analysis of the combined germline-somatic landscape in ovarian cancer. Here we analyse germline and somatic alterations in 429 ovarian carcinoma cases and 557 controls. We identify 3,635 high confidence, rare truncation and 22,953 missense variants with predicted functional impact. We find germline truncation variants and large deletions across Fanconi pathway genes in 20% of cases. Enrichment of rare truncations is shown in BRCA1, BRCA2 and PALB2. In addition, we observe germline truncation variants in genes not previously associated with ovarian cancer susceptibility (NF1, MAP3K4, CDKN2B and MLL3). Evidence for loss of heterozygosity was found in 100 and 76% of cases with germline BRCA1 and BRCA2 truncations, respectively. Germline-somatic interaction analysis combined with extensive bioinformatics annotation identifies 222 candidate functional germline truncation and missense variants, including two pathogenic BRCA1 and 1 TP53 deleterious variants. Finally, integrated analyses of germline and somatic variants identify significantly altered pathways, including the Fanconi, MAPK and MLL pathways.

X Demographics

X Demographics

The data shown below were collected from the profiles of 20 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 363 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 8 2%
United Kingdom 4 1%
Italy 3 <1%
Sweden 3 <1%
Canada 1 <1%
Norway 1 <1%
Japan 1 <1%
Belgium 1 <1%
Unknown 341 94%

Demographic breakdown

Readers by professional status Count As %
Researcher 78 21%
Student > Ph. D. Student 65 18%
Student > Master 41 11%
Student > Bachelor 35 10%
Other 22 6%
Other 63 17%
Unknown 59 16%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 108 30%
Agricultural and Biological Sciences 91 25%
Medicine and Dentistry 52 14%
Computer Science 16 4%
Immunology and Microbiology 4 1%
Other 23 6%
Unknown 69 19%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 50. 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 31 March 2014.
All research outputs
#803,407
of 24,525,936 outputs
Outputs from Nature Communications
#13,432
of 52,815 outputs
Outputs of similar age
#8,915
of 316,362 outputs
Outputs of similar age from Nature Communications
#97
of 448 outputs
Altmetric has tracked 24,525,936 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 96th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 52,815 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 56.1. This one has gotten more attention than average, scoring higher than 74% 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 316,362 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 97% of its contemporaries.
We're also able to compare this research output to 448 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 78% of its contemporaries.