ArticleExperimental & molecular medicine2017
Findings of a 1303 Korean whole-exome sequencing study.
Article in Experimental & molecular medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Secondary findings in hereditary cancer genes after germline genetic testing - systematic review of literature.Human genetics · 2025Pooled it
- Findings from comprehensive genome sequencing in the Canadian population: Results from the GENCOV Study.Genetics in medicine open · 2026Article
- Computational identification of cross-reactive TCR epitopes with ARDitox.Journal of cancer research and clinical oncology · 2025Article
- Secondary Findings from Exome Sequencing of a Greek Cohort.Current issues in molecular biology · 2025Article
- Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.International journal of molecular sciences · 2025Article
- Central neurocytoma exhibits radial glial cell signatures with FGFR3 hypomethylation and overexpression.Experimental & molecular medicine · 2024Article
- Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study.Human genetics · 2023Article
- Clinically actionable secondary findings in 130 triads from sub-Saharan African families with non-syndromic orofacial clefts.Molecular genetics & genomic medicine · 2023Article
- An integrative approach for exploring the nature of fibroepithelial neoplasms.British journal of cancer · 2023Article
- Genomic analysis as a tool to infer disparate phylogenetic origins of dysembryoplastic neuroepithelial tumors and their satellite lesions.Scientific reports · 2023Article
- A retrospective single-centered, comprehensive targeted genetic sequencing analysis of prognostic survival using tissues from Korean patients with metastatic renal cell carcinoma after targeted therapy.Investigative and clinical urology · 2022Article
- Landscape of Secondary Findings in Chinese Population: A Practice of ACMG SF v3.0 List.Journal of personalized medicine · 2022Article
- Multifocal organoids reveal clonal associations between synchronous intestinal tumors with pervasive heterogeneous drug responses.NPJ genomic medicine · 2022Article
- Genetic association-based functional analysis detectsFrontiers in genetics · 2022Article
- Secondary findings in 622 Turkish clinical exome sequencing data.Journal of human genetics · 2021Article
- Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data.Journal of human genetics · 2021Article
- Disclosure of secondary findings in exome sequencing of 2480 Japanese cancer patients.Human genetics · 2021Article
- Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.Frontiers in genetics · 2021Article
- Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes.Molecular genetics & genomic medicine · 2020Article
- The MUC6/AP2A2 Locus and Its Relevance to Alzheimer's Disease: A Review.Journal of neuropathology and experimental neurology · 2020Review
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Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ethnically specific data on genetic variation are crucial for understanding human biology and for clinical interpretation of variant pathogenicity. We analyzed data obtained by deep sequencing 1303 Korean whole exomes; the data were generated by three independent whole exome sequencing projects (named the KOEX study). The primary focus of this study was to comprehensively analyze the variant statistics, investigate secondary findings that may have clinical actionability, and identify loci that should be cautiously interpreted for pathogenicity. A total of 495 729 unique variants were identified at exonic regions, including 169 380 nonsynonymous variants and 4356 frameshift insertion/deletions. Among these, 76 607 were novel coding variants. On average, each individual had 7136 nonsynonymous single-nucleotide variants and 74 frameshift insertion/deletions. We classified 13 pathogenic and 13 likely pathogenic variants in 56 genes that may have clinical actionability according to the guidelines of the American College of Medical Genetics and Genomics, and the Association for Molecular Pathology. The carrier frequency of these 26 variants was 2.46% (95% confidence interval 1.73-3.46). To identify loci that require cautious interpretation in clinical sequencing, we identified 18 genes that are prone to sequencing errors, and 671 genes that are highly polymorphic and carry excess nonsynonymous variants. The catalog of identified variants, its annotation and frequency information are publicly available (http://koex.snu.ac.kr). These findings should be useful resources for investigating ethnically specific characteristics in human health and disease.
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