Aquila enables reference-assisted diploid personal genome assembly and comprehensive variant detection based on linked reads
oleh: Xin Zhou, Lu Zhang, Ziming Weng, David L. Dill, Arend Sidow
| Format: | Article |
|---|---|
| Diterbitkan: | Nature Portfolio 2021-02-01 |
Deskripsi
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.