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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Foilsithe in: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
Formáid: Artigo
Teanga:Inglês
Foilsithe: Nature Publishing Group US 2020
Ábhair:
Letter
Rochtain Ar Líne: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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