Title |
Read count-based method for high-throughput allelic genotyping of transposable elements and structural variants
|
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Published in |
BMC Genomics, July 2015
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DOI | 10.1186/s12864-015-1700-4 |
Pubmed ID | |
Authors |
Alexandre Kuhn, Yao Min Ong, Stephen R. Quake, William F. Burkholder |
Abstract |
Like other structural variants, transposable element insertions can be highly polymorphic across individuals. Their functional impact, however, remains poorly understood. Current genome-wide approaches for genotyping insertion-site polymorphisms based on targeted or whole-genome sequencing remain very expensive and can lack accuracy, hence new large-scale genotyping methods are needed. We describe a high-throughput method for genotyping transposable element insertions and other types of structural variants that can be assayed by breakpoint PCR. The method relies on next-generation sequencing of multiplex, site-specific PCR amplification products and read count-based genotype calls. We show that this method is flexible, efficient (it does not require rounds of optimization), cost-effective and highly accurate. This method can benefit a wide range of applications from the routine genotyping of animal and plant populations to the functional study of structural variants in humans. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Germany | 1 | 20% |
Unknown | 4 | 80% |
Demographic breakdown
Type | Count | As % |
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Scientists | 3 | 60% |
Members of the public | 2 | 40% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Hungary | 1 | 3% |
Germany | 1 | 3% |
France | 1 | 3% |
Brazil | 1 | 3% |
South Africa | 1 | 3% |
Japan | 1 | 3% |
Unknown | 33 | 85% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 10 | 26% |
Student > Ph. D. Student | 9 | 23% |
Professor | 5 | 13% |
Student > Bachelor | 3 | 8% |
Professor > Associate Professor | 3 | 8% |
Other | 5 | 13% |
Unknown | 4 | 10% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 15 | 38% |
Biochemistry, Genetics and Molecular Biology | 9 | 23% |
Engineering | 4 | 10% |
Computer Science | 3 | 8% |
Chemistry | 1 | 3% |
Other | 1 | 3% |
Unknown | 6 | 15% |