Title |
Accurate variant detection across non-amplified and whole genome amplified DNA using targeted next generation sequencing
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Published in |
BMC Genomics, September 2012
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DOI | 10.1186/1471-2164-13-500 |
Pubmed ID | |
Authors |
Abdou ElSharawy, Jason Warner, Jeff Olson, Michael Forster, Markus B Schilhabel, Darren R Link, Stefan Rose-John, Stefan Schreiber, Philip Rosenstiel, James Brayer, Andre Franke |
Abstract |
Many hypothesis-driven genetic studies require the ability to comprehensively and efficiently target specific regions of the genome to detect sequence variations. Often, sample availability is limited requiring the use of whole genome amplification (WGA). We evaluated a high-throughput microdroplet-based PCR approach in combination with next generation sequencing (NGS) to target 384 discrete exons from 373 genes involved in cancer. In our evaluation, we compared the performance of six non-amplified gDNA samples from two HapMap family trios. Three of these samples were also preamplified by WGA and evaluated. We tested sample pooling or multiplexing strategies at different stages of the tested targeted NGS (T-NGS) workflow. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Germany | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Scientists | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 6 | 8% |
Germany | 1 | 1% |
Australia | 1 | 1% |
Unknown | 70 | 90% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 27 | 35% |
Student > Ph. D. Student | 14 | 18% |
Student > Bachelor | 6 | 8% |
Professor > Associate Professor | 5 | 6% |
Other | 4 | 5% |
Other | 12 | 15% |
Unknown | 10 | 13% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 37 | 47% |
Biochemistry, Genetics and Molecular Biology | 17 | 22% |
Medicine and Dentistry | 2 | 3% |
Engineering | 2 | 3% |
Chemistry | 2 | 3% |
Other | 6 | 8% |
Unknown | 12 | 15% |