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Targeted next-generation sequencing identification of mutations in patients with disorders of sex development

Overview of attention for article published in BMC Medical Genetics, March 2016
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • Among the highest-scoring outputs from this source (#38 of 892)
  • High Attention Score compared to outputs of the same age (84th percentile)

Mentioned by

news
1 news outlet
twitter
3 tweeters

Citations

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30 Dimensions

Readers on

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47 Mendeley
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Title
Targeted next-generation sequencing identification of mutations in patients with disorders of sex development
Published in
BMC Medical Genetics, March 2016
DOI 10.1186/s12881-016-0286-2
Pubmed ID
Authors

Yanling Dong, Yuting Yi, Hong Yao, Ziying Yang, Huamei Hu, Jiucheng Liu, Changxin Gao, Ming Zhang, Liying Zhou, Asan, Xin Yi, Zhiqing Liang

Abstract

The identification of causative mutations is important for treatment decisions and genetic counseling of patients with disorders of sex development (DSD). Here, we designed a new assay based on targeted next-generation sequencing (NGS) to diagnose these genetically heterogeneous disorders. All coding regions and flanking sequences of 219 genes implicated in DSD were designed to be included on a panel. A total of 45 samples were used for sex chromosome dosage validation by targeted sequencing using the NGS platform. Among these, 21 samples were processed to find the causative mutation. The sex chromosome dosages of all 45 samples in this assay were concordant with their corresponding karyotyping results. Among the 21 DSD patients, a total of 11 mutations in SRY, NR0B1, AR, CYP17A1, GK, CHD7, and SRD5A2 were identified, including five single nucleotide variants, three InDels, one in-frame duplication, one SRY-positive 46,XX, and one gross duplication with an estimated size of more than 427,038 bp containing NR0B1 and GK. We also identified six novel mutations: c.230_231insA in SRY, c.7389delA in CHD7, c.273C>G in NR0B1, and c.2158G>A, c.1825A>G, and c.2057_2065dupTGTGTGCTG in AR. Our assay was able to make a genetic diagnosis for eight DSD patients (38.1 %), and identified variants of uncertain clinical significance in the other three cases (14.3 %). Targeted NGS is therefore a comprehensive and efficient method to diagnose DSD. This work also expands the pathogenic mutation spectrum of DSD.

Twitter Demographics

The data shown below were collected from the profiles of 3 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 47 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 47 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 8 17%
Student > Master 8 17%
Researcher 7 15%
Student > Postgraduate 5 11%
Professor 3 6%
Other 10 21%
Unknown 6 13%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 15 32%
Medicine and Dentistry 13 28%
Agricultural and Biological Sciences 6 13%
Computer Science 1 2%
Immunology and Microbiology 1 2%
Other 3 6%
Unknown 8 17%

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 03 October 2019.
All research outputs
#1,666,084
of 14,574,667 outputs
Outputs from BMC Medical Genetics
#38
of 892 outputs
Outputs of similar age
#40,262
of 265,602 outputs
Outputs of similar age from BMC Medical Genetics
#1
of 1 outputs
Altmetric has tracked 14,574,667 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 892 research outputs from this source. They receive a mean Attention Score of 2.8. This one has done particularly well, scoring higher than 95% 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 265,602 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 84% of its contemporaries.
We're also able to compare this research output to 1 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