Assembly of HiFi long-read sequencing for Korean whole-genome, K-001, K-002, K-003

Blood samples were collected from three Korean individuals (K-001: female, aged 50 years; K-002 and K-003: males, aged 29 and 36 years, respectively) at the Chungnam National University Hospital (Daejeon, South Korea), with written informed consent from all participants and approval from the Institutional Review Board (IRB number: CNUH 2019-06-034). All methods were performed in accordance with the relevant guidelines and regulations and carried out in accordance with the Declaration of Helsinki. Genomic DNA was isolated from 5 mL blood samples using DNeasy Blood & Tissue Kit (Qiagen, Carlsbad, CA, USA), according to the manufacturer’s instructions. The quality and quantity of the extracted genomic DNA were analyzed using an ND-1000 spectrophotometer (Thermo Fisher Scientific, Waltham, MA, USA). For long-read sequencing, we used the Sequel II HiFi system (Pacific Biosciences, Menlo Park, CA, USA). Briefly, HiFi sequencing libraries were prepared using a SMRTbell Express Template Prep Kit 2.0 (PN 101-853-100), followed by immediate treatment using a SMRTbell Enzyme Cleanup Kit (Pacific Biosciences). After pooling the fractions of the desired size (approximately 15–19 kb), the final libraries were further cleaned and concentrated using AMPure PB beads (Pacific Biosciences). Finally, library concentrations were assessed using a Qubit 1X dsDNA HS Assay Kit (Thermo Fisher Scientific), and the libraries were then sequenced using the Sequel IIe HiFi system (Pacific Biosciences). We assembled the raw HiFi reads de novo into contigs using hifiasm (version 0.16.0; default settings) and converted the GFA-formatted output to FASTA-formatted files.

• 18/09/2026
• 3 samples
• DAC: EGAC50000000214
• Technology: Sequel II

• Archive: European Genome-phenome Archive (EGA)