Aquila enables reference-assisted diploid personal genome assembly and comprehensive variant detection based on linked reads

Genome assembly approaches are limited by factors including cost, power and incomplete resolution. Here, the authors present Aquila, a method that uses a reference sequence and linked read data to generate high quality diploid genome assemblies from which genetic variation can be detected and phased...

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Autores principales: Xin Zhou, Lu Zhang, Ziming Weng, David L. Dill, Arend Sidow
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/510921fb5e644af2b377aa9970ed505a
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Sumario:Genome assembly approaches are limited by factors including cost, power and incomplete resolution. Here, the authors present Aquila, a method that uses a reference sequence and linked read data to generate high quality diploid genome assemblies from which genetic variation can be detected and phased.