Haplotype-resolved assembly of diploid genomes without parental data.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 35332338.
- Also identified by DOI 10.1038/s41587-022-01261-x and PMC identifier 9464699.
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Abstract
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.
Medical subject headings
- Diploidy
- Genome