AmpliconReconstructor integrates NGS and optical mapping to resolve the complex structures of focal amplifications

Focal copy number amplifications (fCNAs), which drive cancer pathogenicity, arise by a number of mechanisms and can be challenging to call. Here the authors present AmpliconReconstructor for precise and scalable fCNA reconstruction using optical mapping and next-generation sequencing data.

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Autores principales: Jens Luebeck, Ceyda Coruh, Siavash R. Dehkordi, Joshua T. Lange, Kristen M. Turner, Viraj Deshpande, Dave A. Pai, Chao Zhang, Utkrisht Rajkumar, Julie A. Law, Paul S. Mischel, Vineet Bafna
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2020
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Acceso en línea:https://doaj.org/article/f072105319bb4cc08d37a2a5027abc98
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