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Haplotype-resolved assembly of diploid genomes without parental data.

Haoyu ChengErich D JarvisOlivier FedrigoKlaus-Peter KoepfliLara UrbanNeil J GemmellHeng Li
Published in: Nature biotechnology (2022)
Routine haplotype-resolved genome assembly from single samples remains an unresolved problem. Here we describe an algorithm that combines PacBio HiFi reads and Hi-C chromatin interaction data to produce a haplotype-resolved assembly without the sequencing of parents. Applied to human and other vertebrate samples, our algorithm consistently outperforms existing single-sample assembly pipelines and generates assemblies of similar quality to the best pedigree-based assemblies.
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