Whole-genome long-read sequencing downsampling and its effect on variant calling precision and recall

Advances in long-read sequencing (LRS) technology continue to make whole-genome sequencing more complete, affordable, and accurate. LRS provides significant advantages over short-read sequencing approaches, including phased de novo genome assembly, access to previously excluded genomic regions, and...

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Detalles Bibliográficos
Autores principales: Harvey, William T., Ebert, Peter, Ebler, Jana, Audano, Peter A., Munson, Katherine M., Hoekzema, Kendra, Porubsky, David, Beck, Christine R., Marschall, Tobias, Garimella, Kiran, Eichler, Evan E.
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/PMC10187267/
https://www.ncbi.nlm.nih.gov/pubmed/37205567
http://dx.doi.org/10.1101/2023.05.04.539448

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10187267/
https://www.ncbi.nlm.nih.gov/pubmed/37205567
http://dx.doi.org/10.1101/2023.05.04.539448

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