Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads

Human genomes are typically assembled as consensus sequences that lack information on parental haplotypes. Here we describe a reference-free workflow for diploid de novo genome assembly that combines the chromosome-wide phasing and scaffolding capabilities of single-cell strand sequencing(1,2) with...

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Detalles Bibliográficos
Publicado en:Nat Biotechnol
Main Authors: Porubsky, David, Ebert, Peter, Audano, Peter A., Vollger, Mitchell R., Harvey, William T., Marijon, Pierre, Ebler, Jana, Munson, Katherine M., Sorensen, Melanie, Sulovari, Arvis, Haukness, Marina, Ghareghani, Maryam, Lansdorp, Peter M., Paten, Benedict, Devine, Scott E., Sanders, Ashley D., Lee, Charles, Chaisson, Mark J. P., Korbel, Jan O., Eichler, Evan E., Marschall, Tobias
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group US 2020
Assuntos:
Letter
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7954704/
https://ncbi.nlm.nih.gov/pubmed/33288906
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41587-020-0719-5
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