Haplotype-aware variant calling with PEPPER-Margin-DeepVariant enables high accuracy in nanopore long-reads

Long-read sequencing has the potential to transform variant detection by reaching currently difficult-to-map regions and routinely linking together adjacent variations to enable read based phasing. Third-generation nanopore sequence data has demonstrated a long read length, but current interpretatio...

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Detalles Bibliográficos
Autores principales: Shafin, Kishwar, Pesout, Trevor, Chang, Pi-Chuan, Nattestad, Maria, Kolesnikov, Alexey, Goel, Sidharth, Baid, Gunjan, Kolmogorov, Mikhail, Eizenga, Jordan M., Miga, Karen H., Carnevali, Paolo, Jain, Miten, Carroll, Andrew, Paten, Benedict
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8571015/
https://www.ncbi.nlm.nih.gov/pubmed/34725481
http://dx.doi.org/10.1038/s41592-021-01299-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8571015/
https://www.ncbi.nlm.nih.gov/pubmed/34725481
http://dx.doi.org/10.1038/s41592-021-01299-w

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