Fig. 1

Schematic diagram of study design. Sequencing data from five different platforms were used for initial de novo assembly, assembly evaluation, scaffolding, and phasing for the normal reference sample (HCC1395BL B Lymphocyte cell line), while sequencing data from three platforms were used for de novo assembly and assembly evaluation for the tumor reference sample (HCC1395 breast cancer cell line from the same donor). The final assembled personal genome, known as HCC1395BL_v1.0, was used as reference for read mapping with both short and long reads, and assessment of somatic SNVs and SVs as compared to that using GRCh38 as reference