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The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa

Overview of attention for article published in BMC Genomics, July 2015
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Title
The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa
Published in
BMC Genomics, July 2015
DOI 10.1186/s12864-015-1723-x
Pubmed ID
Authors

Chang-Ki Yoon, Nayoung K. D. Kim, Je-Gun Joung, Joo Young Shin, Jung Hyun Park, Hye-Hyun Eum, Hae-ock Lee, Woong-Yang Park, Hyeong Gon Yu

Abstract

Identification of the causative genes of retinitis pigmentosa (RP) is important for the clinical care of patients with RP. However, a comprehensive genetic study has not been performed in Korean RP patients. Moreover, the genetic heterogeneity found in sensorineural genetic disorders makes identification of pathogenic mutations challenging. Therefore, high throughput genetic testing using massively parallel sequencing is needed. Sixty-two Korean patients with nonsyndromic RP (46 patients from 18 families and 16 simplex cases) who consented to molecular genetic testing were recruited in this study and targeted exome sequencing was applied on 53 RP-related genes. Causal variants were characterised by selecting exonic and splicing variants, selecting variants with low allele frequency (below 1 %), and discarding the remaining variants with quality below 20. The variants were additionally confirmed by an inheritance pattern and cosegregation test of the families, and the rest of the variants were prioritised using in-silico prediction tools. Finally, causal variants were detected from 10 of 18 familial cases (55.5 %) and 7 of 16 simplex cases (43.7 %) in total. Novel variants were detected in 13 of 20 (65 %) candidate variants. Compound heterozygous variants were found in four of 7 simplex cases. Panel-based targeted re-sequencing can be used as an effective molecular diagnostic tool for RP.

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

The data shown below were compiled from readership statistics for 18 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 18 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 4 22%
Student > Bachelor 3 17%
Professor > Associate Professor 3 17%
Student > Ph. D. Student 1 6%
Student > Master 1 6%
Other 3 17%
Unknown 3 17%
Readers by discipline Count As %
Medicine and Dentistry 4 22%
Biochemistry, Genetics and Molecular Biology 4 22%
Engineering 2 11%
Agricultural and Biological Sciences 2 11%
Computer Science 1 6%
Other 1 6%
Unknown 4 22%

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 11 July 2015.
All research outputs
#13,140,566
of 16,534,657 outputs
Outputs from BMC Genomics
#6,924
of 9,071 outputs
Outputs of similar age
#162,101
of 234,445 outputs
Outputs of similar age from BMC Genomics
#1
of 2 outputs
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