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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Next-generation sequencing of 100 candidate genes in young victims of suspected sudden cardiac death with structural abnormalities of the heart
|
|---|---|
| Published in |
International Journal of Legal Medicine, September 2015
|
| DOI | 10.1007/s00414-015-1261-8 |
| Pubmed ID | |
| Authors |
C. L. Hertz, S. L. Christiansen, L. Ferrero-Miliani, M. Dahl, P. E. Weeke, G. L. Ottesen, R. Frank-Hansen, H. Bundgaard, N. Morling |
| Abstract |
In sudden, unexpected, non-traumatic death in young individuals, structural abnormalities of the heart are frequently identified at autopsy. However, the findings may be unspecific and cause of death may remain unclear. A significant proportion of these cases are most likely caused by inherited cardiac diseases, and the cases are categorized as sudden cardiac death (SCD). The purpose of this study was to explore the added diagnostic value of genetic testing by next-generation sequencing (NGS) of a broad gene panel, as a supplement to the traditional forensic investigation in cases with non-diagnostic structural abnormalities of the heart. We screened 72 suspected SCD cases (<50 years) using the HaloPlex Target Enrichment System (Agilent) and NGS (Illumina MiSeq) for 100 genes previously associated with inherited cardiomyopathies and channelopathies. Fifty-two cases had non-diagnostic structural cardiac abnormalities and 20 cases, diagnosed with a cardiomyopathy post-mortem (ARVC = 14, HCM = 6), served as comparators. Fifteen (29 %) of the deceased individuals with non-diagnostic findings had variants with likely functional effects based on conservation, computational prediction, allele-frequency and supportive literature. The corresponding frequency in deceased individuals with cardiomyopathies was 35 % (p = 0.8). The broad genetic screening revealed variants with likely functional effects at similar high rates, i.e. in 29 and 35 % of the suspected SCD cases with non-diagnostic and diagnostic cardiac abnormalities, respectively. Although the interpretation of broad NGS screening is challenging, it can support the forensic investigation and help the cardiologist's decision to offer counselling and clinical evaluation to relatives of young SCD victims. |
X Demographics
The data shown below were collected from the profiles of 3 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 States | 1 | 33% |
| Spain | 1 | 33% |
| Unknown | 1 | 33% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 67% |
| Practitioners (doctors, other healthcare professionals) | 1 | 33% |
Mendeley readers
The data shown below were compiled from readership statistics for 98 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Canada | 2 | 2% |
| Italy | 1 | 1% |
| United Kingdom | 1 | 1% |
| Unknown | 94 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 17 | 17% |
| Student > Ph. D. Student | 16 | 16% |
| Student > Master | 11 | 11% |
| Other | 9 | 9% |
| Professor > Associate Professor | 5 | 5% |
| Other | 18 | 18% |
| Unknown | 22 | 22% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 28 | 29% |
| Biochemistry, Genetics and Molecular Biology | 26 | 27% |
| Agricultural and Biological Sciences | 9 | 9% |
| Computer Science | 2 | 2% |
| Psychology | 2 | 2% |
| Other | 5 | 5% |
| Unknown | 26 | 27% |
Attention Score in Context
This research output has an Altmetric Attention Score of 2. 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 23 September 2015.
All research outputs
#14,825,310
of 22,828,180 outputs
Outputs from International Journal of Legal Medicine
#844
of 2,067 outputs
Outputs of similar age
#150,256
of 272,396 outputs
Outputs of similar age from International Journal of Legal Medicine
#10
of 18 outputs
Altmetric has tracked 22,828,180 research outputs across all sources so far. This one is in the 32nd percentile – i.e., 32% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,067 research outputs from this source. They receive a mean Attention Score of 4.6. This one has gotten more attention than average, scoring higher than 54% 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 272,396 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 41st percentile – i.e., 41% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 18 others from the same source and published within six weeks on either side of this one. This one is in the 38th percentile – i.e., 38% of its contemporaries scored the same or lower than it.