ArticleScientific reports2018
KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it.
- CMDB: the comprehensive population genome variation database of China.Nucleic acids research · 2023Pooled it
- Expanding CIRdb, a comprehensive catalog of whole-exome sequencing data of Canary Islanders.iScience · 2026Article
- National genomic projects in Asia and Africa: a review.Human genomics · 2026Review
- Comprehensive Germline Profiling of High-Grade Serous Ovarian Cancer Using Whole-Exome Sequencing.International journal of molecular sciences · 2026Article
- Ancient genomes reveal an extensive kinship network and endogamy in a Three-Kingdoms period society in Korea.Science advances · 2026Article
- Genomic alterations linked to recurrence risk in high-grade serous ovarian cancer revealed by deep targeted sequencing.Scientific reports · 2025Article
- Whole-genome resequencing uncovers population structure and candidate molecular markers for litter size in hetian sheep.BMC genomics · 2025Article
- Tracing human genetic histories and natural selection with precise local ancestry inference.Nature communications · 2025Article
- Rare disease genomics and precision medicine.Genomics & informatics · 2024Review
- Article
- ILIAD: a suite of automated Snakemake workflows for processing genomic data for downstream applications.BMC bioinformatics · 2023Article
- A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants.Science advances · 2023Article
- A common variant rs2054564 in ADAMST17 is associated with susceptibility to lumbar spondylosis.Scientific reports · 2023Article
- PharmaKoVariome database for supporting genetic testing.Database : the journal of biological databases and curation · 2022Article
- Genome interpretation using in silico predictors of variant impact.Human genetics · 2022Review
- Developing CIRdb as a catalog of natural genetic variation in the Canary Islanders.Scientific reports · 2022Article
- Genetic association of IL17 and the importance of ABO blood group antigens in saliva to COVID-19.Scientific reports · 2022Article
- The frequency of the known mitochondrial variants associated with drug-induced toxicity in a Korean population.BMC medical genomics · 2022Article
- Comparison of sequencing data processing pipelines and application to underrepresented African human populations.BMC bioinformatics · 2021Article
- Article
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Authors and funding
19 authors.
Funding
Abstract
High-coverage whole-genome sequencing data of a single ethnicity can provide a useful catalogue of population-specific genetic variations, and provides a critical resource that can be used to more accurately identify pathogenic genetic variants. We report a comprehensive analysis of the Korean population, and present the Korean National Standard Reference Variome (KoVariome). As a part of the Korean Personal Genome Project (KPGP), we constructed the KoVariome database using 5.5 terabases of whole genome sequence data from 50 healthy Korean individuals in order to characterize the benign ethnicity-relevant genetic variation present in the Korean population. In total, KoVariome includes 12.7M single-nucleotide variants (SNVs), 1.7M short insertions and deletions (indels), 4K structural variations (SVs), and 3.6K copy number variations (CNVs). Among them, 2.4M (19%) SNVs and 0.4M (24%) indels were identified as novel. We also discovered selective enrichment of 3.8M SNVs and 0.5M indels in Korean individuals, which were used to filter out 1,271 coding-SNVs not originally removed from the 1,000 Genomes Project when prioritizing disease-causing variants. KoVariome health records were used to identify novel disease-causing variants in the Korean population, demonstrating the value of high-quality ethnic variation databases for the accurate interpretation of individual genomes and the precise characterization of genetic variations.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.