Research and technology

PacBio HiFi sequencing creates highly accurate circularized consensus reads. How are these reads generated? By ligating hairpin adapters, the DNA fragment that is being sequenced becomes a circle. This means that the machine can du multiple passes over the same DNA-sequence, to weed out any misread nucleotides. This is how PacBio HiFi reads can be so long, while remaining over 99.9% accurate.

Hi-C sequencing is done to capture how the chromatin is folded within the cell nucleus. By ligating the folded DNA-strands, we can capture which loci are found in close proximity, and thus which parts of the DNA are found within the same chromosomes.

When combining these two, we can create haplotype resolved assemblies, meaning we can separate reads by maternal and paternal origin, without having access to parental data. In diploid, or polyploid organisms, this adds another level of information, and creates more accurate assemblies than a primary and alternate assembly would.