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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events
|
|---|---|
| Published in |
Breast Cancer Research, November 2017
|
| DOI | 10.1186/s13058-017-0919-1 |
| Pubmed ID | |
| Authors |
Lucy C. de Jong, Simone Cree, Vanessa Lattimore, George A. R. Wiggins, Amanda B. Spurdle, kConFab Investigators, Allison Miller, Martin A. Kennedy, Logan C. Walker |
| Abstract |
Laboratory assays evaluating the effect of DNA sequence variants on BRCA1 mRNA splicing may contribute to classification by providing molecular evidence. However, our knowledge of normal and aberrant BRCA1 splicing events to date has been limited to data derived from assays targeting partial transcript sequences. This study explored the utility of nanopore sequencing to examine whole BRCA1 mRNA transcripts and to provide accurate categorisation of in-frame and out-of-frame splicing events. The exon structure of BRCA1 transcripts from a previously studied control lymphoblastoid cell line were assessed using MinION nanopore sequencing of long-range reverse transcriptase-PCR amplicons. Our study identified and characterised 32 complete BRCA1 isoforms, including 18 novel isoforms which showed skipping of multiple contiguous and/or non-contiguous exons. Furthermore, we show that known BRCA1 exon skipping events, such as Δ(9,10) and Δ21, can co-occur in a single transcript, with some isoforms containing four or more alternative splice junctions. Fourteen novel isoforms were formed entirely from a combination of previously identified alternative splice junctions, suggesting that the total number of BRCA1 isoforms might be lower than the number of splicing events reported previously. Our results highlight complexity in BRCA1 transcript structure that has not been described previously. This finding has key implications for predicting the translation frame of splicing transcripts, important for interpreting the clinical significance of spliceogenic variants. Future research is warranted to quantitatively assess full-length BRCA1 transcript levels, and to assess the application of nanopore sequencing for routine evaluation of potential spliceogenic variants. |
X Demographics
The data shown below were collected from the profiles of 9 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 | 3 | 33% |
| United Kingdom | 2 | 22% |
| Germany | 1 | 11% |
| Spain | 1 | 11% |
| Unknown | 2 | 22% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 5 | 56% |
| Scientists | 4 | 44% |
Mendeley readers
The data shown below were compiled from readership statistics for 105 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 105 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 25 | 24% |
| Researcher | 18 | 17% |
| Student > Master | 13 | 12% |
| Student > Bachelor | 10 | 10% |
| Student > Doctoral Student | 4 | 4% |
| Other | 10 | 10% |
| Unknown | 25 | 24% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 33 | 31% |
| Agricultural and Biological Sciences | 21 | 20% |
| Medicine and Dentistry | 5 | 5% |
| Computer Science | 4 | 4% |
| Engineering | 3 | 3% |
| Other | 12 | 11% |
| Unknown | 27 | 26% |
Attention Score in Context
This research output has an Altmetric Attention Score of 4. 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 17 April 2018.
All research outputs
#7,359,319
of 25,382,440 outputs
Outputs from Breast Cancer Research
#849
of 2,054 outputs
Outputs of similar age
#135,402
of 446,708 outputs
Outputs of similar age from Breast Cancer Research
#8
of 20 outputs
Altmetric has tracked 25,382,440 research outputs across all sources so far. This one has received more attention than most of these and is in the 69th percentile.
So far Altmetric has tracked 2,054 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 12.2. This one has gotten more attention than average, scoring higher than 57% 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 446,708 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 68% of its contemporaries.
We're also able to compare this research output to 20 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 60% of its contemporaries.