Using single-cell long-read sequencing technology (SMOOTH-seq), we have sequenced K562 and HG002 cells on PacBio HiFi and Oxford Nanopore Technologies (ONT) platforms and conducted de novo genome assembly. For the first time, we have completed the human genome assembly with high continuity at single-cell levels, and explored the impact of different assemblers and sequencing strategies on genome assembly. With sequencing data from 30 diploid individual HG002 cells of relatively high genome coverage (average coverage ~41.7%) on ONT platform, the NG50 can reach over 1.3Mbp. Furthermore, with the assembled genome from K562 single-cell dataset, more complete and accurate set of insertion events and complex structural variations could be identified. This study opened a new chapter on the practice of single-cell genome de novo assembly.
[(Haoling Xie, Wen Li, Yuqiong Hu, Cheng Yang, Jiansen Lu, Yuqing Guo, Lu Wen, Fuchou Tang, De novo assembly of human genome at single-cell levels, Nucleic Acids Research, 2022)[https://doi.org/10.1093/nar/gkac586]