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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Quantitative Analysis of BRCA1 and BRCA2 Germline Splicing Variants Using a Novel RNA-Massively Parallel Sequencing Assay
|
|---|---|
| Published in |
Frontiers in oncology, July 2018
|
| DOI | 10.3389/fonc.2018.00286 |
| Pubmed ID | |
| Authors |
Suzette Farber-Katz, Vickie Hsuan, Sitao Wu, Tyler Landrith, Huy Vuong, Dong Xu, Bing Li, Jayne Hoo, Stephanie Lam, Sarah Nashed, Deborah Toppmeyer, Phillip Gray, Ginger Haynes, Hsiao-Mei Lu, Aaron Elliott, Brigette Tippin Davis, Rachid Karam |
| Abstract |
Clinical genetic testing for hereditary breast and ovarian cancer (HBOC) is becoming widespread. However, the interpretation of variants of unknown significance (VUS) in HBOC genes, such as the clinically actionable genes BRCA1 and BRCA2, remain a challenge. Among the variants that are frequently classified as VUS are those with unclear effects on splicing. In order to address this issue we developed a high-throughput RNA-massively parallel sequencing assay-CloneSeq-capable to perform quantitative and qualitative analysis of transcripts in cell lines and HBOC patients. This assay is based on cloning of RT-PCR products followed by massive parallel sequencing of the cloned transcripts. To validate this assay we compared it to the RNA splicing assays recommended by members of the ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles) consortium. This comparison was performed using well-characterized lymphoblastoid cell lines (LCLs) generated from carriers of the BRCA1 or BRCA2 germline variants that have been previously described to be associated with splicing defects. CloneSeq was able to replicate the ENIGMA results, in addition to providing quantitative characterization of BRCA1 and BRCA2 germline splicing alterations in a high-throughput fashion. Furthermore, CloneSeq was used to analyze blood samples obtained from carriers of BRCA1 or BRCA2 germline sequence variants, including the novel uncharacterized alteration BRCA1 c.5152+5G>T, which was identified in a HBOC family. CloneSeq provided a high-resolution picture of all the transcripts induced by BRCA1 c.5152+5G>T, indicating it results in significant levels of exon skipping. This analysis proved to be important for the classification of BRCA1 c.5152+5G>T as a clinically actionable likely pathogenic variant. Reclassifications such as these are fundamental in order to offer preventive measures, targeted treatment, and pre-symptomatic screening to the correct individuals. |
X Demographics
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 3 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 67% |
| Scientists | 1 | 33% |
Mendeley readers
The data shown below were compiled from readership statistics for 45 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 45 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 9 | 20% |
| Student > Master | 7 | 16% |
| Student > Ph. D. Student | 5 | 11% |
| Student > Doctoral Student | 5 | 11% |
| Student > Bachelor | 4 | 9% |
| Other | 2 | 4% |
| Unknown | 13 | 29% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 16 | 36% |
| Medicine and Dentistry | 5 | 11% |
| Agricultural and Biological Sciences | 4 | 9% |
| Immunology and Microbiology | 1 | 2% |
| Business, Management and Accounting | 1 | 2% |
| Other | 2 | 4% |
| Unknown | 16 | 36% |
Attention Score in Context
This research output has an Altmetric Attention Score of 22. 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 11 April 2019.
All research outputs
#1,824,956
of 26,493,550 outputs
Outputs from Frontiers in oncology
#364
of 23,231 outputs
Outputs of similar age
#35,595
of 345,555 outputs
Outputs of similar age from Frontiers in oncology
#7
of 155 outputs
Altmetric has tracked 26,493,550 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 93rd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 23,231 research outputs from this source. They receive a mean Attention Score of 3.2. This one has done particularly well, scoring higher than 98% 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 345,555 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 89% of its contemporaries.
We're also able to compare this research output to 155 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 95% of its contemporaries.