Article
A fully phased accurate assembly of an individual human genome
2019-11-26
Abstract excerpt
The prevailing genome assembly paradigm is to produce consensus sequences that “collapse” parental haplotypes into a consensus sequence. Here, we leverage the chromosome-wide phasing and scaffolding capabilities of single-cell strand sequencing (Strand-seq) 1,2 and combine them with high-fidelity (HiFi) long sequencing reads 3 , in a novel reference-free workflow for diploid de novo genome assembly. Employing t...
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Identifiers and source
- Literature Corpus work
- 3df6f637-6be2-5d81-8f4b-8047b88c6e09
- DOI
- 10.1101/855049