De novo assembly of human genome at single-cell levels

In our study, we improved the TGS platform-based SMOOTH-seq technology we recently developed, applied it to ONT platform, aiming to investigate the feasibility of assembling human genome at single-cell levels. We have completed the human genome assembly with high continuity (NG50 of ~2Mb) at single-cell levels (30 or more individual cells), and explored the impacts of different assemblers and sequencing platforms and different strategies for de novo human genome assembly.

本研究对我们近期开发的基于第三代测序（Third Generation Sequencing，TGS）平台的SMOOTH-seq技术进行了优化，并将其应用于牛津纳米孔技术（Oxford Nanopore Technologies，ONT）测序平台，旨在探究人类基因组的单细胞水平组装可行性。我们已完成30个及以上单个细胞的单细胞水平高连续性人类基因组组装，其NG50约为2Mb，并探究了不同组装软件、测序平台及不同策略对人类基因组从头组装的影响。