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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2021-02-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-021-21395-x |