ArticleScientific reports2017
Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.
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Who cites it
51 citing papers in PubMed.
- A single arm phase Ib/II trial of first-line pembrolizumab, trastuzumab and chemotherapy for advanced HER2-positive gastric cancer.Nature communications · 2022Trial
- Comprehensive Germline Profiling of High-Grade Serous Ovarian Cancer Using Whole-Exome Sequencing.International journal of molecular sciences · 2026Article
- High-throughput radiation sensitivity screening of 3D-head and neck squamous cell carcinoma (HNSCC) organoids using an automated radiation modulator (ARM).Materials today. Bio · 2026Article
- Clinicopathologic characteristics and genomic profiling of HER2-low advanced gastric or gastroesophageal junction cancer.ESMO open · 2026Article
- Distribution and prognostic impact of LymphGen subtypes in Korean diffuse large B-cell lymphoma using clinical NGS panel.Blood advances · 2026Article
- Refinement of the classification of DDX41 variants through analysis of aggregated clinical datasets.Leukemia · 2026Article
- Analytical and clinical validation of CancerMaster, an automated targeted NGS panel, for tumor-only precision oncology.Scientific reports · 2026Article
- Article
- Characteristics of Germline and Somatic Mutations of DNA Repair Genes in Korean Men with Prostate Cancer.The world journal of men's health · 2026Article
- Genomic alterations linked to recurrence risk in high-grade serous ovarian cancer revealed by deep targeted sequencing.Scientific reports · 2025Article
- Integrated analysis of COVID-19 multi-omics data for eQTLs reveals genetic mechanisms underlying disease severity.bioRxiv : the preprint server for biology · 2025Article
- Rare disease genomics and precision medicine.Genomics & informatics · 2024Review
- The DNA repair pathway as a therapeutic target to synergize with trastuzumab deruxtecan in HER2-targeted antibody-drug conjugate-resistant HER2-overexpressing breast cancer.Journal of experimental & clinical cancer research : CR · 2024Article
- Integration of whole-exome sequencing and structural neuroimaging analysis in major depressive disorder: a joint study.Translational psychiatry · 2024Article
- Investigation of blood group genotype prevalence in Korean population using large genomic databases.Scientific reports · 2023Article
- Gene-specific machine learning for pathogenicity prediction of rare BRCA1 and BRCA2 missense variants.Scientific reports · 2023Article
- Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.Annals of laboratory medicine · 2023Article
- Association between vascular ultrasound features and DNA sequencing in breast cancer: a preliminary study.Discover oncology · 2023Article
- Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.Life science alliance · 2022Article
- Clinical and Genomic Profiles of Korean Patients withAnnals of laboratory medicine · 2022Article
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Authors and funding
13 authors.
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Abstract
Despite efforts to interrogate human genome variation through large-scale databases, systematic preference toward populations of Caucasian descendants has resulted in unintended reduction of power in studying non-Caucasians. Here we report a compilation of coding variants from 1,055 healthy Korean individuals (KOVA; Korean Variant Archive). The samples were sequenced to a mean depth of 75x, yielding 101 singleton variants per individual. Population genetics analysis demonstrates that the Korean population is a distinct ethnic group comparable to other discrete ethnic groups in Africa and Europe, providing a rationale for such independent genomic datasets. Indeed, KOVA conferred 22.8% increased variant filtering power in addition to Exome Aggregation Consortium (ExAC) when used on Korean exomes. Functional assessment of nonsynonymous variant supported the presence of purifying selection in Koreans. Analysis of copy number variants detected 5.2 deletions and 10.3 amplifications per individual with an increased fraction of novel variants among smaller and rarer copy number variable segments. We also report a list of germline variants that are associated with increased tumor susceptibility. This catalog can function as a critical addition to the pre-existing variant databases in pursuing genetic studies of Korean individuals.
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