Title |
Vex-seq: high-throughput identification of the impact of genetic variation on pre-mRNA splicing efficiency
|
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Published in |
Genome Biology, June 2018
|
DOI | 10.1186/s13059-018-1437-x |
Pubmed ID | |
Authors |
Scott I. Adamson, Lijun Zhan, Brenton R. Graveley |
Abstract |
Understanding the functional impact of genomic variants is a major goal of modern genetics and personalized medicine. Although many synonymous and non-coding variants act through altering the efficiency of pre-mRNA splicing, it is difficult to predict how these variants impact pre-mRNA splicing. Here, we describe a massively parallel approach we use to test the impact on pre-mRNA splicing of 2059 human genetic variants spanning 110 alternative exons. This method, called variant exon sequencing (Vex-seq), yields data that reinforce known mechanisms of pre-mRNA splicing, identifies variants that impact pre-mRNA splicing, and will be useful for increasing our understanding of genome function. |
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United States | 12 | 41% |
Australia | 2 | 7% |
Spain | 1 | 3% |
United Kingdom | 1 | 3% |
Benin | 1 | 3% |
Singapore | 1 | 3% |
New Zealand | 1 | 3% |
India | 1 | 3% |
Unknown | 9 | 31% |
Demographic breakdown
Type | Count | As % |
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Scientists | 15 | 52% |
Members of the public | 13 | 45% |
Science communicators (journalists, bloggers, editors) | 1 | 3% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 77 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 21 | 27% |
Researcher | 17 | 22% |
Student > Bachelor | 6 | 8% |
Student > Doctoral Student | 5 | 6% |
Student > Master | 4 | 5% |
Other | 7 | 9% |
Unknown | 17 | 22% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 24 | 31% |
Agricultural and Biological Sciences | 19 | 25% |
Neuroscience | 2 | 3% |
Engineering | 2 | 3% |
Business, Management and Accounting | 1 | 1% |
Other | 4 | 5% |
Unknown | 25 | 32% |