Nanopore sequencing
DNA samples isolated from whole blood were sequenced with the Genomic DNA by Ligation (SQK-LSK109) protocol with FLO-PRO002 flowcell as per the manufacturer’s instructions (Oxford Nanopore Technologies). Sequencing and base calling were performed on the PromethION platform using MinKnow-20.06.9 including Guppy 4.0.11 high-accuracy basecalling. Subsequently, reads were aligned with minimap2 (v.2.16; preset: map-ont) [