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

We introduce Aquila, a new approach to variant discovery in personal genomes, which is critical for uncovering the genetic contributions to health and disease. Aquila uses a reference sequence and linked-read data to generate a high quality diploid genome assembly, from which it then comprehensively...

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Detalles Bibliográficos
Autores principales: Zhou, Xin, Zhang, Lu, Weng, Ziming, Dill, David L., Sidow, Arend
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7889865/
https://www.ncbi.nlm.nih.gov/pubmed/33597536
http://dx.doi.org/10.1038/s41467-021-21395-x