Brief
Human genome resequencing is a genome sequencing based on next-generation sequencing technology, which mainly focuses on the analysis of single nucleotide variation (SNV) and small fragment insertion deletion mutation (InDel), and faces challenges in the detection of variation in some repeated regions and structural variation in large fragments (SV); however, PacBio third-generation long-read sequencing can cover long structural variation sequences, and low-depth third-generation sequencing can effectively identify most structural variations in human genome. Any mutations of SNV, InDel and SV can be obtained simultaneously by using HiFi reads.
