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A curated gene list for reporting results of newborn genomic sequencing

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

  • In the top 5% of all research outputs scored by Altmetric
  • Among the highest-scoring outputs from this source (#28 of 2,348)
  • High Attention Score compared to outputs of the same age (98th percentile)
  • High Attention Score compared to outputs of the same age and source (96th percentile)

Mentioned by

news
12 news outlets
blogs
1 blog
twitter
115 tweeters
facebook
2 Facebook pages

Citations

dimensions_citation
40 Dimensions

Readers on

mendeley
75 Mendeley
citeulike
2 CiteULike
Title
A curated gene list for reporting results of newborn genomic sequencing
Published in
Genetics in Medicine, January 2017
DOI 10.1038/gim.2016.193
Pubmed ID
Authors

Ozge Ceyhan-Birsoy, Kalotina Machini, Matthew S. Lebo, Tim W. Yu, Pankaj B. Agrawal, Richard B. Parad, Ingrid A. Holm, Amy McGuire, Robert C. Green, Alan H. Beggs, Heidi L. Rehm

Abstract

Genomic sequencing (GS) for newborns may enable detection of conditions for which early knowledge can improve health outcomes. One of the major challenges hindering its broader application is the time it takes to assess the clinical relevance of detected variants and the genes they impact so that disease risk is reported appropriately. To facilitate rapid interpretation of GS results in newborns, we curated a catalog of genes with putative pediatric relevance for their validity based on the ClinGen clinical validity classification framework criteria, age of onset, penetrance, and mode of inheritance through systematic evaluation of published evidence. Based on these attributes, we classified genes to guide the return of results in the BabySeq Project, a randomized, controlled trial exploring the use of newborn GS (nGS), and used our curated list for the first 15 newborns sequenced in this project. Here, we present our curated list for 1,514 gene-disease associations. Overall, 954 genes met our criteria for return in nGS. This reference list eliminated manual assessment for 41% of rare variants identified in 15 newborns. Our list provides a resource that can assist in guiding the interpretive scope of clinical GS for newborns and potentially other populations.Genet Med advance online publication 12 January 2017Genetics in Medicine (2017); doi:10.1038/gim.2016.193.

Twitter Demographics

The data shown below were collected from the profiles of 115 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 75 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 1%
Argentina 1 1%
Unknown 73 97%

Demographic breakdown

Readers by professional status Count As %
Researcher 20 27%
Other 13 17%
Student > Ph. D. Student 8 11%
Student > Bachelor 7 9%
Student > Master 6 8%
Other 11 15%
Unknown 10 13%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 27 36%
Medicine and Dentistry 14 19%
Agricultural and Biological Sciences 13 17%
Computer Science 2 3%
Arts and Humanities 1 1%
Other 5 7%
Unknown 13 17%

Attention Score in Context

This research output has an Altmetric Attention Score of 158. 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 07 December 2019.
All research outputs
#144,301
of 17,530,453 outputs
Outputs from Genetics in Medicine
#28
of 2,348 outputs
Outputs of similar age
#5,220
of 395,153 outputs
Outputs of similar age from Genetics in Medicine
#3
of 60 outputs
Altmetric has tracked 17,530,453 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 2,348 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 17.8. This one has done particularly well, scoring higher than 98% 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 395,153 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 98% of its contemporaries.
We're also able to compare this research output to 60 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.