SvABA: genome-wide detection of structural variants and indels by local assembly

Structural variants (SVs), including small insertion and deletion variants (indels), are challenging to detect through standard alignment-based variant calling methods. Sequence assembly offers a powerful approach to identifying SVs, but is difficult to apply at scale genome-wide for SV detection du...

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Veröffentlicht in:Genome Res
Hauptverfasser: Wala, Jeremiah A., Bandopadhayay, Pratiti, Greenwald, Noah F., O'Rourke, Ryan, Sharpe, Ted, Stewart, Chip, Schumacher, Steve, Li, Yilong, Weischenfeldt, Joachim, Yao, Xiaotong, Nusbaum, Chad, Campbell, Peter, Getz, Gad, Meyerson, Matthew, Zhang, Cheng-Zhong, Imielinski, Marcin, Beroukhim, Rameen
Format: Artigo
Sprache:Inglês
Veröffentlicht: Cold Spring Harbor Laboratory Press 2018
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Method
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5880247/
https://ncbi.nlm.nih.gov/pubmed/29535149
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.221028.117
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