Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications.
High-throughput DNA sequencing technology has transformed genetic research and is starting to make an impact on clinical practice. However, analyzing high-throughput sequencing data remains challenging, particularly in clinical settings where accuracy and turnaround times are critical. We present a...
Main Authors: | Rimmer, A, Phan, H, Mathieson, I, Iqbal, Z, Twigg, SR, Wilkie, A, McVean, G, Lunter, G |
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Format: | Journal article |
Jezik: | English |
Izdano: |
Nature Publishing Group
2014
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