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Utility of Next Generation Sequencing in Clinical Primary Immunodeficiencies

Overview of attention for article published in Current Allergy and Asthma Reports, August 2014
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Title
Utility of Next Generation Sequencing in Clinical Primary Immunodeficiencies
Published in
Current Allergy and Asthma Reports, August 2014
DOI 10.1007/s11882-014-0468-y
Pubmed ID
Authors

Nikita Raje, Sarah Soden, Douglas Swanson, Christina E. Ciaccio, Stephen F. Kingsmore, Darrell L. Dinwiddie

Abstract

Primary immunodeficiencies (PIDs) are a group of genetically heterogeneous disorders that present with very similar symptoms, complicating definitive diagnosis. More than 240 genes have hitherto been associated with PIDs, of which more than 30 have been identified in the last 3 years. Next generation sequencing (NGS) of genomes or exomes of informative families has played a central role in the discovery of novel PID genes. Furthermore, NGS has the potential to transform clinical molecular testing for established PIDs, allowing all PID differential diagnoses to be tested at once, leading to increased diagnostic yield, while decreasing both the time and cost of obtaining a molecular diagnosis. Given that treatment of PID varies by disease gene, early achievement of a molecular diagnosis is likely to enhance treatment decisions and improve patient outcomes.

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The data shown below were collected from the profile of 1 X user 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 %
United States 1 2%
Unknown 64 98%

Demographic breakdown

Readers by professional status Count As %
Researcher 15 23%
Student > Bachelor 10 15%
Student > Master 9 14%
Other 7 11%
Student > Doctoral Student 6 9%
Other 8 12%
Unknown 10 15%
Readers by discipline Count As %
Medicine and Dentistry 23 35%
Immunology and Microbiology 11 17%
Biochemistry, Genetics and Molecular Biology 9 14%
Agricultural and Biological Sciences 7 11%
Pharmacology, Toxicology and Pharmaceutical Science 2 3%
Other 1 2%
Unknown 12 18%
Attention Score in Context

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 October 2014.
All research outputs
#18,380,628
of 22,766,595 outputs
Outputs from Current Allergy and Asthma Reports
#653
of 803 outputs
Outputs of similar age
#168,026
of 235,671 outputs
Outputs of similar age from Current Allergy and Asthma Reports
#21
of 25 outputs
Altmetric has tracked 22,766,595 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 803 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.9. This one is in the 8th percentile – i.e., 8% 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 235,671 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 16th percentile – i.e., 16% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 25 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.