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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders
|
|---|---|
| Published in |
Human Genomics, June 2016
|
| DOI | 10.1186/s40246-016-0080-4 |
| Pubmed ID | |
| Authors |
S. Fokstuen, P. Makrythanasis, E. Hammar, M. Guipponi, E. Ranza, K. Varvagiannis, F. A. Santoni, M. Albarca-Aguilera, M. E. Poleggi, F. Couchepin, C. Brockmann, A. Mauron, S. A. Hurst, C. Moret, C. Gehrig, A. Vannier, J. Bevillard, T. Araud, S. Gimelli, E. Stathaki, A. Paoloni-Giacobino, A. Bottani, F. Sloan-Béna, L. D’Amato Sizonenko, M. Mostafavi, H. Hamamy, T. Nouspikel, J. L. Blouin, S. E. Antonarakis |
| Abstract |
In order to optimally integrate the use of high-throughput sequencing (HTS) as a tool in clinical diagnostics of likely monogenic disorders, we have created a multidisciplinary "Genome Clinic Task Force" at the University Hospitals of Geneva, which is composed of clinical and molecular geneticists, bioinformaticians, technicians, bioethicists, and a coordinator. We have implemented whole exome sequencing (WES) with subsequent targeted bioinformatics analysis of gene lists for specific disorders. Clinical cases of heterogeneous Mendelian disorders that could potentially benefit from HTS are presented and discussed during the sessions of the task force. Debate concerning the interpretation of identified variants and the content of the final report constitutes a major part of the task force's work. Furthermore, issues related to bioethics, genetic counseling, quality control, and reimbursement are also addressed. This multidisciplinary task force has enabled us to create a platform for regular exchanges between all involved experts in order to deal with the multiple complex issues related to HTS in clinical practice and to continuously improve the diagnostic use of HTS. In addition, this task force was instrumental to formally approve the reimbursement of HTS for molecular diagnosis of Mendelian disorders in Switzerland. |
X Demographics
The data shown below were collected from the profiles of 5 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 2 | 40% |
| Unknown | 3 | 60% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 4 | 80% |
| Members of the public | 1 | 20% |
Mendeley readers
The data shown below were compiled from readership statistics for 41 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 1 | 2% |
| Canada | 1 | 2% |
| Unknown | 39 | 95% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 10 | 24% |
| Student > Ph. D. Student | 6 | 15% |
| Student > Bachelor | 5 | 12% |
| Other | 3 | 7% |
| Professor > Associate Professor | 3 | 7% |
| Other | 9 | 22% |
| Unknown | 5 | 12% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 14 | 34% |
| Medicine and Dentistry | 6 | 15% |
| Agricultural and Biological Sciences | 3 | 7% |
| Computer Science | 2 | 5% |
| Engineering | 2 | 5% |
| Other | 4 | 10% |
| Unknown | 10 | 24% |
Attention Score in Context
This research output has an Altmetric Attention Score of 6. 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 22 October 2019.
All research outputs
#6,496,331
of 25,374,917 outputs
Outputs from Human Genomics
#152
of 564 outputs
Outputs of similar age
#100,131
of 367,033 outputs
Outputs of similar age from Human Genomics
#3
of 14 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 74th percentile.
So far Altmetric has tracked 564 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.7. This one has gotten more attention than average, scoring higher than 72% 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 367,033 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 72% of its contemporaries.
We're also able to compare this research output to 14 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 78% of its contemporaries.