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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Genomic approaches to diagnose rare bone disorders
|
|---|---|
| Published in |
BONE, July 2016
|
| DOI | 10.1016/j.bone.2016.07.020 |
| Pubmed ID | |
| Authors |
Félix Falardeau, Maria Vittoria Camurri, Philippe M. Campeau |
| Abstract |
Skeletal dysplasias are Mendelian disorders with a prevalence of approximatively 1 in every 5000 newborns and can usually be diagnosed based on clinical and radiological findings. However, given that some diseases can be caused by several different genes, and that some genes can cause a variety of different phenotypes, achieving a molecular diagnosis can be challenging. We review here different approaches, from single gene sequencing to genomic approaches using next-generation sequencing, to reach a molecular diagnosis for skeletal dysplasias. We will further describe the overall advantages and limitations of first, second and third-generation sequencing, including single gene sequencing, whole-exome and genome sequencing (WES and WGS), multiple gene panel sequencing and single molecule sequencing. We also provide a brief overview of potential future applications of emerging technologies. |
X Demographics
The data shown below were collected from the profiles of 6 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Saudi Arabia | 1 | 17% |
| Netherlands | 1 | 17% |
| Belgium | 1 | 17% |
| Spain | 1 | 17% |
| Unknown | 2 | 33% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 3 | 50% |
| Practitioners (doctors, other healthcare professionals) | 1 | 17% |
| Science communicators (journalists, bloggers, editors) | 1 | 17% |
| Scientists | 1 | 17% |
Mendeley readers
The data shown below were compiled from readership statistics for 32 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 32 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 11 | 34% |
| Student > Bachelor | 5 | 16% |
| Student > Ph. D. Student | 5 | 16% |
| Other | 3 | 9% |
| Student > Postgraduate | 3 | 9% |
| Other | 4 | 13% |
| Unknown | 1 | 3% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 9 | 28% |
| Medicine and Dentistry | 9 | 28% |
| Agricultural and Biological Sciences | 5 | 16% |
| Business, Management and Accounting | 2 | 6% |
| Unspecified | 1 | 3% |
| Other | 1 | 3% |
| Unknown | 5 | 16% |
Attention Score in Context
This research output has an Altmetric Attention Score of 4. 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 August 2016.
All research outputs
#8,262,445
of 25,374,917 outputs
Outputs from BONE
#1,198
of 4,328 outputs
Outputs of similar age
#132,108
of 380,100 outputs
Outputs of similar age from BONE
#16
of 67 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. This one has received more attention than most of these and is in the 66th percentile.
So far Altmetric has tracked 4,328 research outputs from this source. They receive a mean Attention Score of 4.9. This one has gotten more attention than average, scoring higher than 71% 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 380,100 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 64% of its contemporaries.
We're also able to compare this research output to 67 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 73% of its contemporaries.