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A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax

Overview of attention for article published in Respiratory Research, May 2016
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (81st percentile)
  • High Attention Score compared to outputs of the same age and source (80th percentile)

Mentioned by

blogs
1 blog
twitter
2 tweeters
facebook
1 Facebook page

Citations

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14 Dimensions

Readers on

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13 Mendeley
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Title
A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax
Published in
Respiratory Research, May 2016
DOI 10.1186/s12931-016-0377-9
Pubmed ID
Authors

Xinxin Zhang, Dehua Ma, Wei Zou, Yibing Ding, Chengchu Zhu, Haiyan Min, Bin Zhang, Wei Wang, Baofu Chen, Minhua Ye, Minghui Cai, Yanqing Pan, Lei Cao, Yueming Wan, Yu Jin, Qian Gao, Long Yi

Abstract

Primary spontaneous pneumothorax (PSP) or pulmonary cysts is one of the manifestations of Birt-Hogg-Dube syndrome (BHDS) that is caused by heterozygous mutations in FLCN gene. Most of the mutations are SNVs and small indels, and there are also approximately 10 % large intragenic deletions and duplications of the mutations. These molecular findings are generally obtained by disparate methods including Sanger sequencing and Multiple Ligation-dependent Probe Amplification in the clinical laboratory. In addition, as a genetically heterogeneous disorder, PSP may be caused by mutations in multiple genes include FBN1, COL3A1, CBS, SERPINA1 and TSC1/TSC2 genes. For differential diagnosis, these genes should also be screened which makes the diagnostic procedure more time-consuming and labor-intensive. Forty PSP patients were divided into 2 groups. Nineteen patients with different pathogenic mutations of FLCN previously identified by conventional Sanger sequencing and MLPA were included in test group, 21 random PSP patients without any genetic screening were included in blinded sample group. 7 PSP genes including FLCN, FBN1, COL3A1, CBS, SERPINA1 and TSC1/TSC2 were designed and enriched by Haloplex system, sequenced on a Miseq platform and analyzed in the 40 patients to evaluate the performance of the targeted-NGS method. We demonstrated that the full spectrum of genes associated with pneumothorax including FLCN gene mutations can be identified simultaneously in multiplexed sequence data. Noteworthy, by our in-house copy number analysis of the sequence data, we could not only detect intragenic deletions, but also determine approximate deletion junctions simultaneously. NGS based Haloplex target enrichment technology is proved to be a rapid and cost-effective screening strategy for the comprehensive molecular diagnosis of BHDS in PSP patients, as it can replace Sanger sequencing and MLPA by simultaneously detecting exonic and intronic SNVs, small indels, large intragenic deletions and determining deletion junctions in PSP-related genes.

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 13 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 13 100%

Demographic breakdown

Readers by professional status Count As %
Other 3 23%
Student > Ph. D. Student 3 23%
Student > Doctoral Student 2 15%
Researcher 2 15%
Professor > Associate Professor 1 8%
Other 1 8%
Unknown 1 8%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 5 38%
Medicine and Dentistry 4 31%
Nursing and Health Professions 1 8%
Agricultural and Biological Sciences 1 8%
Neuroscience 1 8%
Other 0 0%
Unknown 1 8%

Attention Score in Context

This research output has an Altmetric Attention Score of 9. 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 31 May 2016.
All research outputs
#1,400,811
of 10,677,937 outputs
Outputs from Respiratory Research
#145
of 1,236 outputs
Outputs of similar age
#51,250
of 277,274 outputs
Outputs of similar age from Respiratory Research
#8
of 41 outputs
Altmetric has tracked 10,677,937 research outputs across all sources so far. Compared to these this one has done well and is in the 86th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,236 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.0. This one has done well, scoring higher than 88% 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 277,274 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 81% of its contemporaries.
We're also able to compare this research output to 41 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 80% of its contemporaries.