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.
@article{arxiv.2109.04785,
title = {Robust haplotype-resolved assembly of diploid individuals without parental data},
author = {Haoyu Cheng and Erich D. Jarvis and Olivier Fedrigo and Klaus-Peter Koepfli and Lara Urban and Neil J. Gemmell and Heng Li},
journal= {arXiv preprint arXiv:2109.04785},
year = {2021}
}