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Attention Score in Context
| Title |
Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients
|
|---|---|
| Published in |
BMC Medical Genomics, October 2015
|
| DOI | 10.1186/s12881-015-0235-5 |
| Pubmed ID | |
| Authors |
Berta Luzón-Toro, Laura Espino-Paisán, Raquel Ma. Fernández, Marta Martín-Sánchez, Guillermo Antiñolo, Salud Borrego |
| Abstract |
The development of next-generation sequencing (NGS) technologies has a great impact in the human variation detection given their high-throughput. These techniques are particularly helpful for the evaluation of the genetic background in disorders of complex genetic etiology such as Hirschsprung disease (HSCR). The purpose of this study was the design of a panel of HSCR associated genes as a rapid and efficient tool to perform genetic screening in a series of patients. We have performed NGS-based targeted sequencing (454-GS Junior) using a panel containing 26 associated or candidate genes for HSCR in a group of 11 selected HSCR patients. The average percentage of covered bases was of 97%, the 91.4% of the targeted bases were covered with depth above 20X and the mean coverage was 422X. In addition, we have found a total of 13 new coding variants and 11 new variants within regulatory regions among our patients. These outcomes allowed us to re-evaluate the genetic component associated to HSCR in these patients. Our validated NGS panel constitutes an optimum method for the identification of new variants in our patients. This approach could be used for a fast, reliable and more thorough genetic screening in future series of patients. |
X Demographics
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.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 18 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 18 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 3 | 17% |
| Student > Bachelor | 2 | 11% |
| Student > Ph. D. Student | 2 | 11% |
| Student > Master | 2 | 11% |
| Other | 1 | 6% |
| Other | 2 | 11% |
| Unknown | 6 | 33% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 6 | 33% |
| Medicine and Dentistry | 3 | 17% |
| Biochemistry, Genetics and Molecular Biology | 1 | 6% |
| Unknown | 8 | 44% |
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 20 October 2015.
All research outputs
#22,759,452
of 25,374,647 outputs
Outputs from BMC Medical Genomics
#2,010
of 2,444 outputs
Outputs of similar age
#248,193
of 289,648 outputs
Outputs of similar age from BMC Medical Genomics
#51
of 62 outputs
Altmetric has tracked 25,374,647 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,444 research outputs from this source. They receive a mean Attention Score of 4.4. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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We're also able to compare this research output to 62 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.