Robust haplotype-resolved assembly of diploid individuals without parental data

2021/09/10 by Cheng, Haoyu, Jarvis, Erich D., Fedrigo, Olivier +4 · 3 citations
#FOS: Biological sciences #Genomics (q-bio.GN)

paper · doi:10.48550/arxiv.2109.04785

Abstract

Routine single-sample haplotype-resolved assembly remains an unresolved problem. Here we describe a new 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 comparable quality to the best pedigree-based assemblies.

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