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Whole-genome sequences of Korean populations generated by using long- and short-read sequencing technologies.

We newly sequenced whole-genome of Korean participants by using long- and short-read sequencing platforms (n = 3 and n = 100 for long- and short-read sequencing, respectively). With these data, generated by Sequel II HiFi system (Pacific Bioscience) and DNBSEQ-T7 (MGI) sequencers, we identified a set of structural variations common in Korean population as well as the genetic features distinct from other ethnicities.

Type: Whole Genome Sequencing
Archive: European Genome-phenome Archive (EGA)

2 Datasets 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD50000000552	There are a total of 106 samples in the dataset: i) long-read sequences of the three samples labeled as K-001, K-002, and K-003; and ii) short-read sequences of 103 samples labeled as K-001 to K-103. Of note, we produced both short- and long-read sequences for the three samples (K-001, K-002, and K-003). Both the short- and long-read sequencing data are encrypted from gzip-compressed FASTQ files. According to the manufacturers' protocols, each of short- and long-read sequences was produced by DNBSEQ-T7 system with the MGIEasy FS DNA Prep kit (MGI) and Sequel II HiFi system with SMRTbell Express Template Prep Kit 2.0 (Pacific Bioscience), respectively.	Illumina NovaSeq 6000 Sequel II	106
EGAD50000001281	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.	Sequel II	3

Publications	Citations
Highly accurate Korean draft genomes reveal structural variation highlighting human telomere evolution. Kim J, Park JL, Yang JO, Kim S, Joe S, Park G, Hwang T, Cho MJ, Lee S, Lee JE, Park JH, Yeo MK, Kim SY. Nucleic Acids Res 53: 2025 gkae1294	12