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Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing

Overview of attention for article published in Genome Medicine, October 2013
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (87th percentile)
  • High Attention Score compared to outputs of the same age and source (83rd percentile)

Mentioned by

news
1 news outlet
twitter
2 X users

Citations

dimensions_citation
32 Dimensions

Readers on

mendeley
65 Mendeley
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Title
Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing
Published in
Genome Medicine, October 2013
DOI 10.1186/gm488
Pubmed ID
Authors

Rinki Ratnapriya, Anand Swaroop

Abstract

Inherited retinal degenerative diseases (RDDs) display wide variation in their mode of inheritance, underlying genetic defects, age of onset, and phenotypic severity. Molecular mechanisms have not been delineated for many retinal diseases, and treatment options are limited. In most instances, genotype-phenotype correlations have not been elucidated because of extensive clinical and genetic heterogeneity. Next-generation sequencing (NGS) methods, including exome, genome, transcriptome and epigenome sequencing, provide novel avenues towards achieving comprehensive understanding of the genetic architecture of RDDs. Whole-exome sequencing (WES) has already revealed several new RDD genes, whereas RNA-Seq and ChIP-Seq analyses are expected to uncover novel aspects of gene regulation and biological networks that are involved in retinal development, aging and disease. In this review, we focus on the genetic characterization of retinal and macular degeneration using NGS technology and discuss the basic framework for further investigations. We also examine the challenges of NGS application in clinical diagnosis and management.

X Demographics

X Demographics

The data shown below were collected from the profiles of 2 X users 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 65 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Italy 1 2%
South Africa 1 2%
Unknown 63 97%

Demographic breakdown

Readers by professional status Count As %
Researcher 14 22%
Student > Bachelor 13 20%
Student > Ph. D. Student 13 20%
Student > Master 7 11%
Other 6 9%
Other 7 11%
Unknown 5 8%
Readers by discipline Count As %
Agricultural and Biological Sciences 24 37%
Biochemistry, Genetics and Molecular Biology 16 25%
Medicine and Dentistry 5 8%
Computer Science 3 5%
Engineering 3 5%
Other 5 8%
Unknown 9 14%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 11. 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 10 August 2016.
All research outputs
#2,691,302
of 22,725,280 outputs
Outputs from Genome Medicine
#619
of 1,436 outputs
Outputs of similar age
#25,966
of 210,284 outputs
Outputs of similar age from Genome Medicine
#1
of 6 outputs
Altmetric has tracked 22,725,280 research outputs across all sources so far. Compared to these this one has done well and is in the 88th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,436 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 25.6. This one has gotten more attention than average, scoring higher than 56% 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 210,284 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 87% of its contemporaries.
We're also able to compare this research output to 6 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them