Haplotype-resolved assembly of diploid genomes without parental data.
Ontology highlight
ABSTRACT:
SUBMITTER: Cheng H
PROVIDER: S-EPMC9464699 | biostudies-literature | 2022 Sep
REPOSITORIES: biostudies-literature
Publications
Haplotype-resolved assembly of diploid genomes without parental data.
Cheng Haoyu H Jarvis Erich D ED Fedrigo Olivier O Koepfli Klaus-Peter KP Urban Lara L Gemmell Neil J NJ Li Heng H
Nature biotechnology 20220324 9
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. ...[more]
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