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Secondary findings and carrier test frequencies in a large multiethnic sample

Overview of attention for article published in Genome Medicine, June 2015
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About this Attention Score

  • Good Attention Score compared to outputs of the same age (69th percentile)

Mentioned by

1 policy source
2 tweeters


44 Dimensions

Readers on

52 Mendeley
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Secondary findings and carrier test frequencies in a large multiethnic sample
Published in
Genome Medicine, June 2015
DOI 10.1186/s13073-015-0171-1
Pubmed ID

Tomasz Gambin, Shalini N. Jhangiani, Jennifer E. Below, Ian M. Campbell, Wojciech Wiszniewski, Donna M. Muzny, Jeffrey Staples, Alanna C. Morrison, Matthew N. Bainbridge, Samantha Penney, Amy L. McGuire, Richard A. Gibbs, James R. Lupski, Eric Boerwinkle


Besides its growing importance in clinical diagnostics and understanding the genetic basis of Mendelian and complex diseases, whole exome sequencing (WES) is a rich source of additional information of potential clinical utility for physicians, patients and their families. We analyzed the frequency and nature of single nucleotide variants (SNVs) considered secondary findings and recessive disease allele carrier status in the exomes of 8554 individuals from a large, randomly sampled cohort study and 2514 patients from a study of presumed Mendelian disease having undergone WES. We used the same sequencing platform and data processing pipeline to analyze all samples and characterized the distributions of reported pathogenic (ClinVar, Human Gene Mutation Database (HGMD)) and predicted deleterious variants in the pre-specified American College of Medical Genetics and Genomics (ACMG) secondary findings and recessive disease genes in different ethnic groups. In the 56 ACMG secondary findings genes, the average number of predicted deleterious variants per individual was 0.74, and the mean number of ClinVar reported pathogenic variants was 0.06. We observed an average of 10 deleterious and 0.78 ClinVar reported pathogenic variants per individual in 1423 autosomal recessive disease genes. By repeatedly sampling pairs of exomes, 0.5 % of the randomly generated couples were at 25 % risk of having an affected offspring for an autosomal recessive disorder based on the ClinVar variants. By investigating reported pathogenic and novel, predicted deleterious variants we estimated the lower and upper limits of the population fraction for which exome sequencing may reveal additional medically relevant information. We suggest that the observed wide range for the lower and upper limits of these frequency numbers will be gradually reduced due to improvement in classification databases and prediction algorithms.

Twitter Demographics

Twitter Demographics

The data shown below were collected from the profiles of 2 tweeters 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 52 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Korea, Republic of 1 2%
United Kingdom 1 2%
Canada 1 2%
Unknown 49 94%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 11 21%
Researcher 10 19%
Other 4 8%
Student > Postgraduate 4 8%
Student > Bachelor 4 8%
Other 12 23%
Unknown 7 13%
Readers by discipline Count As %
Medicine and Dentistry 12 23%
Agricultural and Biological Sciences 12 23%
Biochemistry, Genetics and Molecular Biology 10 19%
Computer Science 3 6%
Arts and Humanities 2 4%
Other 2 4%
Unknown 11 21%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 4. 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 22 October 2019.
All research outputs
of 22,914,829 outputs
Outputs from Genome Medicine
of 1,443 outputs
Outputs of similar age
of 264,801 outputs
Outputs of similar age from Genome Medicine
of 33 outputs
Altmetric has tracked 22,914,829 research outputs across all sources so far. This one has received more attention than most of these and is in the 69th percentile.
So far Altmetric has tracked 1,443 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 25.8. This one is in the 24th percentile – i.e., 24% of its peers scored the same or lower than it.
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 264,801 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 69% of its contemporaries.
We're also able to compare this research output to 33 others from the same source and published within six weeks on either side of this one. This one is in the 21st percentile – i.e., 21% of its contemporaries scored the same or lower than it.