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Abundance of clinical variants in exons included in multiple transcripts

Overview of attention for article published in Human Genomics, June 2018
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Title
Abundance of clinical variants in exons included in multiple transcripts
Published in
Human Genomics, June 2018
DOI 10.1186/s40246-018-0166-2
Pubmed ID
Authors

Sankar Subramanian

Abstract

Previous studies showed that the magnitude of selection pressure in constitutive exons is higher than that in alternatively spliced exons. The intensity of selection was also shown to be depended on the inclusion level of exons: the number of transcripts that include an exon. Here, we examined how the difference in selection pressure influences the patterns of clinical variants in human exons. Our analysis revealed a positive relationship between exon inclusion level and the abundance of pathogenic variants. The proportion of pathogenic variants in the exons that are included in > 10 transcripts was 6.8 times higher than those in the exons included in only one transcript. This suggests that the mutations occurring in the exons included in multiple transcripts are more deleterious than those present in the exons included in one transcript. The findings of this study highlight that the exon inclusion level could be used to predict the mutations associated with diseases.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 2 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 2 100%

Demographic breakdown

Readers by professional status Count As %
Professor 1 50%
Student > Master 1 50%
Readers by discipline Count As %
Agricultural and Biological Sciences 2 100%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 3. 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 26 July 2019.
All research outputs
#14,605,790
of 25,385,509 outputs
Outputs from Human Genomics
#279
of 564 outputs
Outputs of similar age
#171,894
of 342,889 outputs
Outputs of similar age from Human Genomics
#6
of 10 outputs
Altmetric has tracked 25,385,509 research outputs across all sources so far. This one is in the 41st percentile – i.e., 41% of other outputs scored the same or lower than it.
So far Altmetric has tracked 564 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.0. This one is in the 48th percentile – i.e., 48% 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 342,889 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 48th percentile – i.e., 48% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 10 others from the same source and published within six weeks on either side of this one. This one has scored higher than 4 of them.