Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications.

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications.

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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...

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Dettagli Bibliografici
Autori principali:	Rimmer, A, Phan, H, Mathieson, I, Iqbal, Z, Twigg, SR, Wilkie, A, McVean, G, Lunter, G
Natura:	Journal article
Lingua:	English
Pubblicazione:	Nature Publishing Group 2014

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