Long-read Human Whole Genome Resequencing

Structural variants (SVs), including deletions, insertions, duplications, and inversions, account for most base pairs variations in an individual human genome. Long-read sequencing can precisely position in SV, as well as solving complex SV structures. Long-read sequencing can effectively solve some of the insurmountable problems in short-read sequencing, and greatly improve the detection rate of large structural variation sites by constructing ultra-long fragment libraries. The advent of new long-read sequencing technology has led to a revolution in genome sequencing, where long reads up to 100 Kb can be sequenced in a single run without PCR amplification. Long-read sequencing approaches provide the opportunity to more accurately and reliably detect SNP, InDel, SV and CNV at a much higher resolution.