| Title |
Genomics of alternative splicing: evolution, development and pathophysiology
|
|---|---|
| Published in |
Human Genetics, January 2014
|
| DOI | 10.1007/s00439-013-1411-3 |
| Pubmed ID | |
| Authors |
Eric R. Gamazon, Barbara E. Stranger |
| Abstract |
Alternative splicing is a major cellular mechanism in metazoans for generating proteomic diversity. A large proportion of protein-coding genes in multicellular organisms undergo alternative splicing, and in humans, it has been estimated that nearly 90 % of protein-coding genes-much larger than expected-are subject to alternative splicing. Genomic analyses of alternative splicing have illuminated its universal role in shaping the evolution of genomes, in the control of developmental processes, and in the dynamic regulation of the transcriptome to influence phenotype. Disruption of the splicing machinery has been found to drive pathophysiology, and indeed reprogramming of aberrant splicing can provide novel approaches to the development of molecular therapy. This review focuses on the recent progress in our understanding of alternative splicing brought about by the unprecedented explosive growth of genomic data and highlights the relevance of human splicing variation on disease and therapy. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Uzbekistan | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 161 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Germany | 2 | 1% |
| United States | 2 | 1% |
| Spain | 1 | <1% |
| Unknown | 156 | 97% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 57 | 35% |
| Researcher | 26 | 16% |
| Student > Master | 16 | 10% |
| Student > Bachelor | 13 | 8% |
| Student > Doctoral Student | 7 | 4% |
| Other | 21 | 13% |
| Unknown | 21 | 13% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 66 | 41% |
| Biochemistry, Genetics and Molecular Biology | 39 | 24% |
| Medicine and Dentistry | 15 | 9% |
| Pharmacology, Toxicology and Pharmaceutical Science | 4 | 2% |
| Chemistry | 3 | 2% |
| Other | 8 | 5% |
| Unknown | 26 | 16% |
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 20 May 2014.
All research outputs
#18,372,841
of 22,756,196 outputs
Outputs from Human Genetics
#2,694
of 2,951 outputs
Outputs of similar age
#229,365
of 305,249 outputs
Outputs of similar age from Human Genetics
#31
of 35 outputs
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