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Actionable secondary findings from whole-genome sequencing of 954 East Asians

Overview of attention for article published in Human Genetics, November 2017
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Title
Actionable secondary findings from whole-genome sequencing of 954 East Asians
Published in
Human Genetics, November 2017
DOI 10.1007/s00439-017-1852-1
Pubmed ID
Authors

Clara Sze-man Tang, Saloni Dattani, Man-ting So, Stacey S. Cherny, Paul K. H. Tam, Pak C. Sham, Maria-Mercè Garcia-Barcelo

Abstract

Recently, the American College of Medical Genetics (ACMG) recommended the return of actionable secondary findings detected from clinical sequencing. The reported frequency of secondary findings in Asian populations were highly variable and it is unclear whether the uniformity in coverage offered by whole-genome sequencing (WGS) may impact the estimate. In this analysis, we aimed to refine the rate of secondary findings on East Asians through a large-scale WGS study. We classified 1256 protein-altering or splicing variants of the 59 actionable genes detected from WGS of 954 East Asians in strict accordance with the ACMG and the Association for Molecular Pathology guidelines. A total of 21 pathogenic or likely pathogenic variants were detected in 24 of the 954 East Asian genomes with an estimate of 2.5% of East Asians carrying actionable variants. Although the overall estimate of secondary findings was consistent with those reported for non-East Asian ethnicities, genetic and allelic heterogeneity was observed. WGS offers a wider breadth of coverage over WES, which highlights the need to further investigate the variable sensitivity of WES and WGS in the detection of secondary findings. Identifying secondary findings in populations underrepresented in previous genetic literature might improve variant interpretation and has a profound impact on local decision-making with regard to the cost-effectiveness of returning the secondary findings from clinical sequencing.

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Mendeley readers

The data shown below were compiled from readership statistics for 17 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 17 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 4 24%
Unspecified 3 18%
Other 2 12%
Student > Ph. D. Student 2 12%
Student > Master 1 6%
Other 3 18%
Unknown 2 12%
Readers by discipline Count As %
Unspecified 5 29%
Biochemistry, Genetics and Molecular Biology 5 29%
Medicine and Dentistry 3 18%
Agricultural and Biological Sciences 1 6%
Engineering 1 6%
Other 0 0%
Unknown 2 12%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 16 November 2017.
All research outputs
#9,329,397
of 12,149,975 outputs
Outputs from Human Genetics
#2,218
of 2,458 outputs
Outputs of similar age
#185,459
of 281,111 outputs
Outputs of similar age from Human Genetics
#10
of 13 outputs
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