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Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration

Overview of attention for article published in Clinical Ophthalmology, December 2017
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Title
Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration
Published in
Clinical Ophthalmology, December 2017
DOI 10.2147/opth.s147684
Pubmed ID
Authors

Laura Bryant, Olga Lozynska, Albert Maguire, Tomas Aleman, Jean Bennett

Abstract

Accurate clinical diagnosis and prognosis of retinal degeneration can be aided by the identification of the disease-causing genetic variant. It can confirm the clinical diagnosis as well as inform the clinician of the risk for potential involvement of other organs such as kidneys. It also aids in genetic counseling for affected individuals who want to have a child. Finally, knowledge of disease-causing variants informs laboratory investigators involved in translational research. With the advent of next-generation sequencing, identifying pathogenic mutations is becoming easier, especially the identification of novel pathogenic variants. We used whole exome sequencing on a cohort of 69 patients with various forms of retinal degeneration and in whom screens for previously identified disease-causing variants had been inconclusive. All potential pathogenic variants were verified by Sanger sequencing and, when possible, segregation analysis of immediate relatives. Potential variants were identified by using a semi-masked approach in which rare variants in candidate genes were identified without knowledge of the clinical diagnosis (beyond "retinal degeneration") or inheritance pattern. After the initial list of genes was prioritized, genetic diagnosis and inheritance pattern were taken into account. We identified the likely pathogenic variants in 64% of the subjects. Seven percent had a single heterozygous mutation identified that would cause recessive disease and 13% had no obviously pathogenic variants and no family members available to perform segregation analysis. Eleven subjects are good candidates for novel gene discovery. Two de novo mutations were identified that resulted in dominant retinal degeneration. Whole exome sequencing allows for thorough genetic analysis of candidate genes as well as novel gene discovery. It allows for an unbiased analysis of genetic variants to reduce the chance that the pathogenic mutation will be missed due to incomplete or inaccurate family history or analysis at the early stage of a syndromic form of retinal degeneration.

Twitter Demographics

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Mendeley readers

The data shown below were compiled from readership statistics for 19 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 19 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 4 21%
Student > Bachelor 4 21%
Researcher 4 21%
Librarian 2 11%
Professor 1 5%
Other 4 21%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 6 32%
Unspecified 5 26%
Agricultural and Biological Sciences 3 16%
Medicine and Dentistry 2 11%
Social Sciences 1 5%
Other 2 11%

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 19 January 2018.
All research outputs
#9,995,762
of 12,488,808 outputs
Outputs from Clinical Ophthalmology
#1,038
of 1,597 outputs
Outputs of similar age
#246,096
of 340,569 outputs
Outputs of similar age from Clinical Ophthalmology
#24
of 35 outputs
Altmetric has tracked 12,488,808 research outputs across all sources so far. This one is in the 11th percentile – i.e., 11% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,597 research outputs from this source. They receive a mean Attention Score of 3.2. This one is in the 10th percentile – i.e., 10% of its peers scored the same or lower than it.
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We're also able to compare this research output to 35 others from the same source and published within six weeks on either side of this one. This one is in the 25th percentile – i.e., 25% of its contemporaries scored the same or lower than it.