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 |
| _version_ | 1818695251275022336 |
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| author | Xin Zhou Lu Zhang Ziming Weng David L. Dill Arend Sidow |
| author_facet | Xin Zhou Lu Zhang Ziming Weng David L. Dill Arend Sidow |
| author_sort | Xin Zhou |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-17T13:42:30Z |
| format | Article |
| id | doaj.art-510921fb5e644af2b377aa9970ed505a |
| institution | Directory Open Access Journal |
| issn | 2041-1723 |
| language | English |
| last_indexed | 2024-12-17T13:42:30Z |
| publishDate | 2021-02-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Nature Communications |
| spelling | doaj.art-510921fb5e644af2b377aa9970ed505a2022-12-21T21:46:15ZengNature PortfolioNature Communications2041-17232021-02-0112111210.1038/s41467-021-21395-xAquila enables reference-assisted diploid personal genome assembly and comprehensive variant detection based on linked readsXin Zhou0Lu Zhang1Ziming Weng2David L. Dill3Arend Sidow4Department of Computer Science, Stanford UniversityDepartment of Pathology, Stanford UniversityDepartment of Pathology, Stanford UniversityDepartment of Computer Science, Stanford UniversityDepartment of Pathology, Stanford UniversityGenome 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.https://doi.org/10.1038/s41467-021-21395-x |
| spellingShingle | Xin Zhou Lu Zhang Ziming Weng David L. Dill Arend Sidow Aquila enables reference-assisted diploid personal genome assembly and comprehensive variant detection based on linked reads Nature Communications |
| title | Aquila enables reference-assisted diploid personal genome assembly and comprehensive variant detection based on linked reads |
| title_full | Aquila enables reference-assisted diploid personal genome assembly and comprehensive variant detection based on linked reads |
| title_fullStr | Aquila enables reference-assisted diploid personal genome assembly and comprehensive variant detection based on linked reads |
| title_full_unstemmed | Aquila enables reference-assisted diploid personal genome assembly and comprehensive variant detection based on linked reads |
| title_short | Aquila enables reference-assisted diploid personal genome assembly and comprehensive variant detection based on linked reads |
| title_sort | aquila enables reference assisted diploid personal genome assembly and comprehensive variant detection based on linked reads |
| url | https://doi.org/10.1038/s41467-021-21395-x |
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