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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group US 2020
Fag:
Letter
Online adgang: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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