Figure 1: Schematic overview of KOREF assembly procedure.

(a) Short and long insert size libraries by Illumina whole-genome sequencing strategy. (b) Contig assembly using K-mers from short insert size libraries. (c) Scaffold assembly using long insert size libraries. (d) Super-scaffold assembly using OpGen whole-genome mapping approach. (e) Gap closing using PacBio long reads and Illumina TSLR. (f) Assembly assessment using BioNano consensus maps. (g) Chromosome sequence building using whole-genome alignment information into the human reference (GRCh38). (h) Common variants substitution using 40 Korean whole-genome sequences.