Local read haplotagging enables accurate long-read small variant calling

Long-read sequencing technology has enabled variant detection in difficult-to-map regions of the genome and enabled rapid genetic diagnosis in clinical settings. Rapidly evolving third-generation sequencing platforms like Pacific Biosciences (PacBio) and Oxford nanopore technologies (ONT) are introd...

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Detalles Bibliográficos
Autores principales: Kolesnikov, Alexey, Cook, Daniel, Nattestad, Maria, McNulty, Brandy, Gorzynski, John, Goenka, Sneha, Ashley, Euan A., Jain, Miten, Miga, Karen H., Paten, Benedict, Chang, Pi-Chuan, Carroll, Andrew, Shafin, Kishwar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10515762/
https://www.ncbi.nlm.nih.gov/pubmed/37745389
http://dx.doi.org/10.1101/2023.09.07.556731

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10515762/
https://www.ncbi.nlm.nih.gov/pubmed/37745389
http://dx.doi.org/10.1101/2023.09.07.556731

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