SMOOTH-seq: single-cell genome sequencing of human cells on a third-generation sequencing platform

• DOI: 10.1186/s13059-021-02406-y
• Publication Date: 2021-06-30T13:02:56Z
• Authors: Xiaoying Fan; Cheng Yang; Wen Li; Xiuzhen Bai; Xin Zhou; Haoling Xie; Lu Wen; Fuchou Tang
• Keywords: Cancer genome sequencing; Single cell sequencing; Human genetics

Abstract There is no effective way to detect structure variations (SVs) and extra-chromosomal circular DNAs (ecDNAs) at single-cell whole-genome level. Here, we develop a novel third-generation sequencing platform-based (scWGS) method named SMOOTH-seq (single-molecule real-time of long fragments amplified through transposon insertion). We evaluate the for detecting CNVs, SVs, SNVs in human cancer cell lines colorectal sample show that reliably effectively detects SVs ecDNAs individual cells, but shows relatively limited accuracy detection CNVs SNVs. opens new chapter scWGS as it generates high fidelity reads kilobases long.