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...

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Detaylı Bibliyografya
Yayımlandı:Nat Genet
Asıl Yazarlar: Rimmer, Andy, Phan, Hang, Mathieson, Iain, Iqbal, Zamin, Twigg, Stephen R F, Wilkie, Andrew O M, McVean, Gil, Lunter, Gerton
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2014
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4753679/
https://ncbi.nlm.nih.gov/pubmed/25017105
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.3036
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