HG002 Whole Genome Sequencing
In our study we demonstrate the utility of Chm13 (T2T)genome for mapping and lift-over for short reads and long reads usingLeviosam2. We have generated novel ONT R10/kit14 reads to demonstrate thatalso long reads show improvements over utilizing this lift-over method forcalling variants on e.g. Grch38. We explored the unique challanges for thisONT data with respect to Illumina and Pacbio across the genome and especiallyfor medically relevant genes.