Background: As nationwide government-led whole-genome sequencing (WGS) projects progress, optimizing the clinical integration of large-scale WGS results is crucial. We explored how the initial analysis from Korea’s First WGS Pilot Study for Rare Diseases was applied in clinical practice, and then we reanalyzed the data comprehensively at Samsung Medical Center (SMC) Seoul, Korea. Methods: A prospective cohort study designed to collect WGS data under a Korean national initiative was conducted from August 2020 to December 2021. We focused on patients with rare diseases recruited from 16 university hospitals. The participants included 5,000 individuals (2,200 probands and 2,800 family members). The initial WGS data and diagnostic reference reports (from 682 probands and 484 family members), generated based on the First Korean WGS Pilot Study for Rare Diseases, were subsequently reanalyzed by SMC. Results: The initial analysis of the First Korean WGS Pilot Study data revealed a diagnostic rate of 17%. Upon receiving these results, the SMC conducted two rounds of reanalysis, increasing the diagnostic rate from 15% in the first analysis, to 18% in the second, and finally to 24% in the third (P = 1.6 × 10 −5 ). Key factors in improving the genetic diagnosis included increased detection of novel (likely) pathogenic variants (P = 1.0 × 10 −4 ), improved diagnostic rates with larger family recruitment (P = 0.004), and refined clinical information for more precise genotype–phenotype correlation analysis (40%). Conclusions Although national WGS projects lay a foundation for rare disease diagnosis, hospital-level reanalysis and multidisciplinary collaborations are crucial for optimizing diagnostic outcomes.

Objective: To classify life stages for companion dogs and cats by identifying clusters in age-specific disease proportions derived from medical records, providing a data-driven foundation for health examination programs. Methods: We collected 505,667 medical records from 82 veterinary facilities in South Korea between 2020 and 2023. Diagnoses were standardized using GPT-4o and S-BioBERT. Following preprocessing, data from 27 facilities yielded 222,706 canine and 39,910 feline records for the final analysis. Principal component analysis and K-means clustering (K = 4) were applied to age-specific disease proportions to identify life stages.The 10 most highest-proportion diagnoses diseases were determined for each cluster. Results: Canine life stages were classified as ≤ 1 year, 2–5 years, 6–10 years, and 11–15+ years.Feline life stages were 1–2 years, 3–8 years, 9–12 years, and 13–15+ years. In dogs, developmental diseases were common in the youngest age group, while chronic diseases were more prevalent in older groups. In cats, oral and urinary diseases were high-ranking, conjunctivitis was most common in the early stage, and chronic diseases increased with age. Conclusions and Relevance: Age-specific diagnosis patterns support four practical life stages for dogs and cats in South Korea. These boundaries can inform evidence-based preventive examination schedules, animal health policy, and pet insurance product design.

Background and Objectives: The Fractional Flow Reserve and Intravascular UltrasoundGuided Intervention Strategy for Clinical Outcomes in Patients with Intermediate Stenosis (FLAVOUR) trial demonstrated non-inferiority of fractional flow reserve (FFR)-guided percutaneous coronary intervention (PCI) compared with intravascular ultrasound (IVUS)-guided PCI. We sought to investigate the cost-effectiveness of FFR-guided PCI compared to IVUS-guided PCI in Korea. Methods: A 2-part cost-effectiveness model, composed of a short-term decision tree model and a long-term Markov model, was developed for patients who underwent PCI to treat intermediate stenosis (40% to 70% stenosis by visual estimation on coronary angiography).The lifetime healthcare costs and quality-adjusted life-years (QALYs) were estimated from the healthcare system perspective. Transition probabilities were mainly referred from the FLAVOUR trial, and healthcare costs were mainly obtained through analysis of Korean National Health Insurance claims data. Health utilities were mainly obtained from the Seattle Angina Questionnaire responses of FLAVOUR trial participants mapped to EQ-5D. Results: From the Korean healthcare system perspective, the base-case analysis showed that FFR-guided PCI was 2,451 U.S. dollar lower in lifetime healthcare costs and 0.178 higher in QALYs compared to IVUS-guided PCI. FFR-guided PCI remained more likely to be cost-effective over a wide range of willingness-to-pay thresholds in the probabilistic sensitivity analysis. Conclusions Based on the results from the FLAVOUR trial, FFR-guided PCI is projected to decrease lifetime healthcare costs and increase QALYs compared with IVUS-guided PCI in intermediate coronary lesion, and it is a dominant strategy in Korea.

Purpose: This study aimed to perform a genome characterization of Streptococcus mitis KHUD 011, a strain isolated from the oral microbiome of a healthy Korean individual, and to compare its genomic features with other S. mitis strains. Materials and Methods: The strain was identified through 16S rRNA gene sequencing, and its genome was sequenced using the PacBio Sequel II platform. De novo assembly and annotation were performed, followed by comparative genomic analysis with three additional strains (S. mitis NCTC 12261, S022-V3-A4, and B6). Pan-genome and phylogenetic analyses were conducted to identify strain-specific genes and assess inter-strain genomic diversity. Results: The genome of S. mitis KHUD 011 consisted of 1,782 protein-coding genes, with a G+C content of 40.24%. Pan-genome analysis identified 1,263 core gene clusters (50.0%), 496 dispensable clusters (19.7%), and 763 strain-specific clusters (30.3%). KHUD 011 displayed 88 strain-specific genes, particularly associated with cell wall/membrane biogenesis, transcriptional regulation, and carbohydrate metabolism. Phylogenetic analysis placed KHUD 011 closely with NCTC 12261, forming a distinct cluster apart from other strains. Conclusion The genome characterization of S. mitis KHUD 011 underscores substantial inter-strain genomic diversity influenced by host interactions, ecological niches, and health status. The identified strain-specific genes, particularly those associated with cell wall/ membrane biogenesis, transcriptional regulation, and carbohydrate metabolism, suggest adaptations to the oral microbiome and its interaction with the host. These findings highlight the ecological versatility of S. mitis and the importance of exploring strains from diverse environments to better understand their role within the host and the broader microbiome.

Purpose: This study aimed to perform a genome characterization of Streptococcus mitis KHUD 011, a strain isolated from the oral microbiome of a healthy Korean individual, and to compare its genomic features with other S. mitis strains. Materials and Methods: The strain was identified through 16S rRNA gene sequencing, and its genome was sequenced using the PacBio Sequel II platform. De novo assembly and annotation were performed, followed by comparative genomic analysis with three additional strains (S. mitis NCTC 12261, S022-V3-A4, and B6). Pan-genome and phylogenetic analyses were conducted to identify strain-specific genes and assess inter-strain genomic diversity. Results: The genome of S. mitis KHUD 011 consisted of 1,782 protein-coding genes, with a G+C content of 40.24%. Pan-genome analysis identified 1,263 core gene clusters (50.0%), 496 dispensable clusters (19.7%), and 763 strain-specific clusters (30.3%). KHUD 011 displayed 88 strain-specific genes, particularly associated with cell wall/membrane biogenesis, transcriptional regulation, and carbohydrate metabolism. Phylogenetic analysis placed KHUD 011 closely with NCTC 12261, forming a distinct cluster apart from other strains. Conclusion The genome characterization of S. mitis KHUD 011 underscores substantial inter-strain genomic diversity influenced by host interactions, ecological niches, and health status. The identified strain-specific genes, particularly those associated with cell wall/ membrane biogenesis, transcriptional regulation, and carbohydrate metabolism, suggest adaptations to the oral microbiome and its interaction with the host. These findings highlight the ecological versatility of S. mitis and the importance of exploring strains from diverse environments to better understand their role within the host and the broader microbiome.

Background and Objectives: The Fractional Flow Reserve and Intravascular UltrasoundGuided Intervention Strategy for Clinical Outcomes in Patients with Intermediate Stenosis (FLAVOUR) trial demonstrated non-inferiority of fractional flow reserve (FFR)-guided percutaneous coronary intervention (PCI) compared with intravascular ultrasound (IVUS)-guided PCI. We sought to investigate the cost-effectiveness of FFR-guided PCI compared to IVUS-guided PCI in Korea. Methods: A 2-part cost-effectiveness model, composed of a short-term decision tree model and a long-term Markov model, was developed for patients who underwent PCI to treat intermediate stenosis (40% to 70% stenosis by visual estimation on coronary angiography).The lifetime healthcare costs and quality-adjusted life-years (QALYs) were estimated from the healthcare system perspective. Transition probabilities were mainly referred from the FLAVOUR trial, and healthcare costs were mainly obtained through analysis of Korean National Health Insurance claims data. Health utilities were mainly obtained from the Seattle Angina Questionnaire responses of FLAVOUR trial participants mapped to EQ-5D. Results: From the Korean healthcare system perspective, the base-case analysis showed that FFR-guided PCI was 2,451 U.S. dollar lower in lifetime healthcare costs and 0.178 higher in QALYs compared to IVUS-guided PCI. FFR-guided PCI remained more likely to be cost-effective over a wide range of willingness-to-pay thresholds in the probabilistic sensitivity analysis. Conclusions Based on the results from the FLAVOUR trial, FFR-guided PCI is projected to decrease lifetime healthcare costs and increase QALYs compared with IVUS-guided PCI in intermediate coronary lesion, and it is a dominant strategy in Korea.

Purpose: Recent development in perioperative treatment of resectable non–small cell lung cancer (NSCLC) have changed the landscape of early lung cancer management. The ADAURA trial has demonstrated the efficacy of adjuvant osimertinib treatment in resectable NSCLC patients; however, studies are required to show which subgroup of patients are at a high risk of relapse and require adjuvant epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor treatment. This study evaluated risk factors for postoperative relapse among patients who underwent complete resection. Materials and Methods: Data were obtained from the Korean Association for Lung Cancer Registry (KALC-R), a database created using a retrospective sampling survey by the Korean Central Cancer Registry (KCCR) and the Lung Cancer Registration Committee. Results: A total of 3,176 patients who underwent curative resection was evaluated. The mean observation time was approximately 35.4 months. Among stage I to IIIA NSCLC patients, the EGFR-mutant subgroup included 867 patients, and 75.2%, 11.2%, and 11.8% were classified as stage I, stage II, and stage III, respectively. Within the EGFR-mutant subgroup, 44 (5.1%) and 121 (14.0%) patients showed early and late recurrence, respectively. Multivariate analysis on association with postoperative relapse among the EGFR-mutant subgroup showed that age, pathologic N and TNM stages, pleural invasion status, and surgery type were independent significant factors. Conclusion Among the population that underwent complete resection for early NSCLC with EGFR mutation, patients with advanced stage, pleural invasion, or limited resection are more likely to show postoperative relapse.

Purpose: Recent development in perioperative treatment of resectable non–small cell lung cancer (NSCLC) have changed the landscape of early lung cancer management. The ADAURA trial has demonstrated the efficacy of adjuvant osimertinib treatment in resectable NSCLC patients; however, studies are required to show which subgroup of patients are at a high risk of relapse and require adjuvant epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor treatment. This study evaluated risk factors for postoperative relapse among patients who underwent complete resection. Materials and Methods: Data were obtained from the Korean Association for Lung Cancer Registry (KALC-R), a database created using a retrospective sampling survey by the Korean Central Cancer Registry (KCCR) and the Lung Cancer Registration Committee. Results: A total of 3,176 patients who underwent curative resection was evaluated. The mean observation time was approximately 35.4 months. Among stage I to IIIA NSCLC patients, the EGFR-mutant subgroup included 867 patients, and 75.2%, 11.2%, and 11.8% were classified as stage I, stage II, and stage III, respectively. Within the EGFR-mutant subgroup, 44 (5.1%) and 121 (14.0%) patients showed early and late recurrence, respectively. Multivariate analysis on association with postoperative relapse among the EGFR-mutant subgroup showed that age, pathologic N and TNM stages, pleural invasion status, and surgery type were independent significant factors. Conclusion Among the population that underwent complete resection for early NSCLC with EGFR mutation, patients with advanced stage, pleural invasion, or limited resection are more likely to show postoperative relapse.

Purpose: This study aimed to perform a genome characterization of Streptococcus mitis KHUD 011, a strain isolated from the oral microbiome of a healthy Korean individual, and to compare its genomic features with other S. mitis strains. Materials and Methods: The strain was identified through 16S rRNA gene sequencing, and its genome was sequenced using the PacBio Sequel II platform. De novo assembly and annotation were performed, followed by comparative genomic analysis with three additional strains (S. mitis NCTC 12261, S022-V3-A4, and B6). Pan-genome and phylogenetic analyses were conducted to identify strain-specific genes and assess inter-strain genomic diversity. Results: The genome of S. mitis KHUD 011 consisted of 1,782 protein-coding genes, with a G+C content of 40.24%. Pan-genome analysis identified 1,263 core gene clusters (50.0%), 496 dispensable clusters (19.7%), and 763 strain-specific clusters (30.3%). KHUD 011 displayed 88 strain-specific genes, particularly associated with cell wall/membrane biogenesis, transcriptional regulation, and carbohydrate metabolism. Phylogenetic analysis placed KHUD 011 closely with NCTC 12261, forming a distinct cluster apart from other strains. Conclusion The genome characterization of S. mitis KHUD 011 underscores substantial inter-strain genomic diversity influenced by host interactions, ecological niches, and health status. The identified strain-specific genes, particularly those associated with cell wall/ membrane biogenesis, transcriptional regulation, and carbohydrate metabolism, suggest adaptations to the oral microbiome and its interaction with the host. These findings highlight the ecological versatility of S. mitis and the importance of exploring strains from diverse environments to better understand their role within the host and the broader microbiome.

Background and Objectives: The Fractional Flow Reserve and Intravascular UltrasoundGuided Intervention Strategy for Clinical Outcomes in Patients with Intermediate Stenosis (FLAVOUR) trial demonstrated non-inferiority of fractional flow reserve (FFR)-guided percutaneous coronary intervention (PCI) compared with intravascular ultrasound (IVUS)-guided PCI. We sought to investigate the cost-effectiveness of FFR-guided PCI compared to IVUS-guided PCI in Korea. Methods: A 2-part cost-effectiveness model, composed of a short-term decision tree model and a long-term Markov model, was developed for patients who underwent PCI to treat intermediate stenosis (40% to 70% stenosis by visual estimation on coronary angiography).The lifetime healthcare costs and quality-adjusted life-years (QALYs) were estimated from the healthcare system perspective. Transition probabilities were mainly referred from the FLAVOUR trial, and healthcare costs were mainly obtained through analysis of Korean National Health Insurance claims data. Health utilities were mainly obtained from the Seattle Angina Questionnaire responses of FLAVOUR trial participants mapped to EQ-5D. Results: From the Korean healthcare system perspective, the base-case analysis showed that FFR-guided PCI was 2,451 U.S. dollar lower in lifetime healthcare costs and 0.178 higher in QALYs compared to IVUS-guided PCI. FFR-guided PCI remained more likely to be cost-effective over a wide range of willingness-to-pay thresholds in the probabilistic sensitivity analysis. Conclusions Based on the results from the FLAVOUR trial, FFR-guided PCI is projected to decrease lifetime healthcare costs and increase QALYs compared with IVUS-guided PCI in intermediate coronary lesion, and it is a dominant strategy in Korea.