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Haplotype-resolved assembly of diploid genomes without parental data
Journal article   Peer reviewed

Haplotype-resolved assembly of diploid genomes without parental data

Haoyu Cheng, Erich D. Jarvis, Olivier Fedrigo, Klaus-Peter Koepfli, Lara Urban, Neil J. Gemmell and Heng Li
Nature biotechnology, Vol.40(9), pp.1332-1335
01/09/2022
Handle:
https://hdl.handle.net/10523/21740

Abstract

Biotechnology & Applied Microbiology Life Sciences & Biomedicine Science & Technology
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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