| Title |
Deep intronic mutations and human disease
|
|---|---|
| Published in |
Human Genetics, May 2017
|
| DOI | 10.1007/s00439-017-1809-4 |
| Pubmed ID | |
| Authors |
Rita Vaz-Drago, Noélia Custódio, Maria Carmo-Fonseca |
| Abstract |
Next-generation sequencing has revolutionized clinical diagnostic testing. Yet, for a substantial proportion of patients, sequence information restricted to exons and exon-intron boundaries fails to identify the genetic cause of the disease. Here we review evidence from mRNA analysis and entire genomic sequencing indicating that pathogenic mutations can occur deep within the introns of over 75 disease-associated genes. Deleterious DNA variants located more than 100 base pairs away from exon-intron junctions most commonly lead to pseudo-exon inclusion due to activation of non-canonical splice sites or changes in splicing regulatory elements. Additionally, deep intronic mutations can disrupt transcription regulatory motifs and non-coding RNA genes. This review aims to highlight the importance of studying variation in deep intronic sequence as a cause of monogenic disorders as well as hereditary cancer syndromes. |
X Demographics
The data shown below were collected from the profiles of 10 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 | 2 | 20% |
| France | 2 | 20% |
| Saudi Arabia | 1 | 10% |
| Australia | 1 | 10% |
| Unknown | 4 | 40% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 6 | 60% |
| Members of the public | 3 | 30% |
| Practitioners (doctors, other healthcare professionals) | 1 | 10% |
Mendeley readers
The data shown below were compiled from readership statistics for 429 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 429 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 66 | 15% |
| Student > Master | 64 | 15% |
| Researcher | 54 | 13% |
| Student > Bachelor | 52 | 12% |
| Student > Doctoral Student | 25 | 6% |
| Other | 56 | 13% |
| Unknown | 112 | 26% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 150 | 35% |
| Medicine and Dentistry | 67 | 16% |
| Agricultural and Biological Sciences | 48 | 11% |
| Neuroscience | 9 | 2% |
| Computer Science | 6 | 1% |
| Other | 24 | 6% |
| Unknown | 125 | 29% |
Attention Score in Context
This research output has an Altmetric Attention Score of 10. 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 04 March 2022.
All research outputs
#3,843,799
of 25,837,817 outputs
Outputs from Human Genetics
#329
of 3,002 outputs
Outputs of similar age
#65,596
of 327,218 outputs
Outputs of similar age from Human Genetics
#6
of 35 outputs
Altmetric has tracked 25,837,817 research outputs across all sources so far. Compared to these this one has done well and is in the 84th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 3,002 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.1. This one has done well, scoring higher than 88% 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 327,218 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 79% of its contemporaries.
We're also able to compare this research output to 35 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 82% of its contemporaries.