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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2021
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| 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 |