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arXiv · 2109.04785

Robust haplotype-resolved assembly of diploid individuals without parental data

Haoyu Cheng·Erich D. Jarvis·Olivier Fedrigo·Klaus-Peter Koepfli·Lara Urban·Neil J. Gemmell·Heng Li
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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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Haoyu Cheng, Erich D. Jarvis, Olivier Fedrigo, Klaus-Peter Koepfli, Lara Urban, Neil J. Gemmell, Heng Li. 2021-09-10. Robust haplotype-resolved assembly of diploid individuals without parental data. https://arxiv.org/abs/2109.04785

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