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Representing genetic variation with synthetic DNA standards

Overview of attention for article published in Nature Methods, August 2016
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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)
  • High Attention Score compared to outputs of the same age and source (87th percentile)

Mentioned by

news
9 news outlets
blogs
2 blogs
twitter
35 X users
patent
8 patents
facebook
1 Facebook page

Citations

dimensions_citation
37 Dimensions

Readers on

mendeley
147 Mendeley
citeulike
1 CiteULike
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Title
Representing genetic variation with synthetic DNA standards
Published in
Nature Methods, August 2016
DOI 10.1038/nmeth.3957
Pubmed ID
Authors

Ira W Deveson, Wendy Y Chen, Ted Wong, Simon A Hardwick, Stacey B Andersen, Lars K Nielsen, John S Mattick, Tim R Mercer

Abstract

The identification of genetic variation with next-generation sequencing is confounded by the complexity of the human genome sequence and by biases that arise during library preparation, sequencing and analysis. We have developed a set of synthetic DNA standards, termed 'sequins', that emulate human genetic features and constitute qualitative and quantitative spike-in controls for genome sequencing. Sequencing reads derived from sequins align exclusively to an artificial in silico reference chromosome, rather than the human reference genome, which allows them them to be partitioned for parallel analysis. Here we use this approach to represent common and clinically relevant genetic variation, ranging from single nucleotide variants to large structural rearrangements and copy-number variation. We validate the design and performance of sequin standards by comparison to examples in the NA12878 reference genome, and we demonstrate their utility during the detection and quantification of variants. We provide sequins as a standardized, quantitative resource against which human genetic variation can be measured and diagnostic performance assessed.

X Demographics

X Demographics

The data shown below were collected from the profiles of 35 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 147 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 5 3%
Brazil 2 1%
United Kingdom 1 <1%
Ireland 1 <1%
Taiwan 1 <1%
New Zealand 1 <1%
China 1 <1%
Denmark 1 <1%
Unknown 134 91%

Demographic breakdown

Readers by professional status Count As %
Researcher 54 37%
Student > Ph. D. Student 24 16%
Student > Master 18 12%
Student > Bachelor 9 6%
Other 8 5%
Other 19 13%
Unknown 15 10%
Readers by discipline Count As %
Agricultural and Biological Sciences 55 37%
Biochemistry, Genetics and Molecular Biology 49 33%
Computer Science 9 6%
Medicine and Dentistry 8 5%
Environmental Science 3 2%
Other 5 3%
Unknown 18 12%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 100. 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 04 July 2023.
All research outputs
#408,531
of 24,846,849 outputs
Outputs from Nature Methods
#485
of 5,261 outputs
Outputs of similar age
#8,434
of 372,944 outputs
Outputs of similar age from Nature Methods
#11
of 81 outputs
Altmetric has tracked 24,846,849 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 98th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 5,261 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 35.9. This one has done particularly well, scoring higher than 90% 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 372,944 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 81 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 87% of its contemporaries.