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Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations

Overview of attention for article published in Journal of Translational Medicine, May 2016
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Title
Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations
Published in
Journal of Translational Medicine, May 2016
DOI 10.1186/s12967-016-0870-4
Pubmed ID
Authors

J. K. Poninska, Z. T. Bilinska, M. Franaszczyk, E. Michalak, M. Rydzanicz, E. Szpakowski, A. Pollak, B. Milanowska, G. Truszkowska, P. Chmielewski, A. Sioma, H. Janaszek-Sitkowska, A. Klisiewicz, I. Michalowska, M. Makowiecka-Ciesla, P. Kolsut, P. Stawinski, B. Foss-Nieradko, M. Szperl, J. Grzybowski, P. Hoffman, A. Januszewicz, M. Kusmierczyk, R. Ploski

Abstract

Thoracic aortic aneurysms and dissections (TAAD) are silent but possibly lethal condition with up to 40 % of cases being hereditary. Genetic background is heterogeneous. Recently next-generation sequencing enabled efficient and cost-effective examination of gene panels. Aim of the study was to define the diagnostic yield of NGS in the 51 TAAD patients and to look for genotype-phenotype correlations within families of the patients with TAAD. 51 unrelated TAAD patients were examined by either whole exome sequencing or TruSight One sequencing panel. We analyzed rare variants in 10 established thoracic aortic aneurysms-associated genes. Whenever possible, we looked for co-segregation in the families. Kaplan-Meier survival curve was constructed to compare the event-free survival depending on genotype. Aortic events were defined as acute aortic dissection or first planned aortic surgery. In 21 TAAD patients we found 22 rare variants, 6 (27.3 %) of these were previously reported, and 16 (73.7 %) were novel. Based on segregation data, functional analysis and software estimations we assumed that three of novel variants were causative, nine likely causative. Remaining four were classified as of unknown significance (2) and likely benign (2). In all, 9 (17.6 %) of 51 probands had a positive result when considering variants classified as causative only and 18 (35.3 %) if likely causative were also included. Genotype-positive probands (n = 18) showed shorter mean event free survival (41 years, CI 35-46) than reference group, i.e. those (n = 29) without any plausible variant identified (51 years, CI 45-57, p = 0.0083). This effect was also found when the 'genotype-positive' group was restricted to probands with 'likely causative' variants (p = 0.0092) which further supports pathogenicity of these variants. The mean event free survival was particularly low (37 years, CI 27-47) among the probands with defects in the TGF beta signaling (p = 0.0033 vs. the reference group). This study broadens the spectrum of genetic background of thoracic aneurysms and dissections and supports its potential role as a prognostic factor in the patients with the disease.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter 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 30 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 30 100%

Demographic breakdown

Readers by professional status Count As %
Unspecified 5 17%
Student > Doctoral Student 4 13%
Student > Bachelor 4 13%
Student > Master 4 13%
Other 3 10%
Other 10 33%
Readers by discipline Count As %
Medicine and Dentistry 12 40%
Unspecified 8 27%
Agricultural and Biological Sciences 5 17%
Biochemistry, Genetics and Molecular Biology 4 13%
Computer Science 1 3%
Other 0 0%

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 05 May 2016.
All research outputs
#3,963,096
of 7,657,182 outputs
Outputs from Journal of Translational Medicine
#977
of 1,745 outputs
Outputs of similar age
#144,770
of 266,428 outputs
Outputs of similar age from Journal of Translational Medicine
#64
of 99 outputs
Altmetric has tracked 7,657,182 research outputs across all sources so far. This one is in the 28th percentile – i.e., 28% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,745 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.4. This one is in the 12th percentile – i.e., 12% of its peers scored the same or lower than it.
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 266,428 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 35th percentile – i.e., 35% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 99 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.