1.High-Resolution Chromosomal Microarray with Diagnostic Potential for Detecting Exon-Level Copy Number Variations Using Targeted and Non-targeted Approaches
Yeseul KIM ; Jee-Soo LEE ; Boram KIM ; Man Jin KIM ; Sung Im CHO ; Seung Won CHAE ; Ho Seob SHIN ; Hoyeon LEE ; Ji Yeon KIM ; Moon-Woo SEONG
Annals of Laboratory Medicine 2026;46(2):190-199
Background:
Copy number variations (CNVs) play an important role in human genetic disorders. Detection of exon-level CNVs is crucial for accurate clinical diagnosis. The CytoScan XON Array, a high-resolution microarray, was recently developed to detect exonic CNVs of various genes.
Methods:
We evaluated the clinical performance of the CytoScan XON Array using 59 patient samples with previously identified CNVs, confirmed via methods including multiple ligation-dependent probe amplification (MLPA), gene-dose PCR, and mRNA assay. Concordance between CytoScan XON and orthogonal methods was evaluated in target regions, and diagnostic utility was compared with that of genome sequencing (GS)-based CNV calling tools through analysis of false-positive CNVs in non-target genomic regions.
Results:
For target regions, the CytoScan XON Array achieved concordance rates of 89.8% and 92.5% at the exon and gene levels, respectively, for all CNV calls. Concordance was higher for multi-exon CNVs (100%) than that for single-exon CNVs (82.6%, P = 0.03). For non-target regions, false-positive CNV calls were reduced to fewer than 0.01 per gene per person through filtering strategies. The array exhibited false-positive detection rates within dosage-sensitive genes comparable with those of GS-based tools.
Conclusions
The CytoScan XON Array, a reliable tool for detecting exon-level CNVs in target regions, can serve as a complementary approach to GS-based CNV calling tools for genome-wide CNV screening with high resolution. However, its performance for single-exon CNVs requires further optimization. Cross-validation with GS-based CNV calling tools is recommended to improve diagnostic accuracy.
2.Current status of hepatitis C treatment and its barriers in Jeonbuk, Republic of Korea
Ji Hyeon KANG ; You Jeong MOON ; Ung-Gyu KIM ; Jung-Im PARK ; Chang Hun LEE ; In Hee KIM ; Ju-Hyung LEE ; Jin GWACK
Osong Public Health and Research Perspectives 2026;17(2):188-192
Objectives:
In alignment with the World Health Organization’s goal of eliminating hepatitis C, this study assessed the current treatment status and reasons for non-treatment among patients with hepatitis C in Jeonbuk State, Republic of Korea, to inform strategies for improving care engagement.
Methods:
Among 311 individuals diagnosed with hepatitis C and reported through the NationalNotifiable Infectious Disease Surveillance system between January 2023 and June 2024, 208 patients were surveyed after excluding those who had died or could not be contacted.Statistical analyses included the chi-square test, the Cochran-Armitage test for trend, and logistic regression.
Results:
Overall, 116 participants (55.8%) reported having received antiviral therapy. Among the 92 untreated individuals, the most common reason for non-treatment was the absence of symptoms (n = 23; 25.0%), followed by the burden of drug costs (n = 21; 22.8%).
Conclusion
These findings highlight suboptimal treatment uptake and key barriers that may hinder progress toward hepatitis C elimination. Expanding screening and strengthening linkage-to-care strategies, while addressing financial barriers, will be essential to achievingnational elimination targets.
3.Prospective external validation of a deep-learning-based early-warning system for major adverse events in general wards in South Korea
Taeyong SIM ; Eun Young CHO ; Ji-hyun KIM ; Kyung Hyun LEE ; Kwang Joon KIM ; Sangchul HAHN ; Eun Yeong HA ; Eunkyeong YUN ; In-Cheol KIM ; Sun Hyo PARK ; Chi-Heum CHO ; Gyeong Im YU ; Byung Eun AHN ; Yeeun JEONG ; Joo-Yun WON ; Hochan CHO ; Ki-Byung LEE
Acute and Critical Care 2025;40(2):197-208
Background:
Acute deterioration of patients in general wards often leads to major adverse events (MAEs), including unplanned intensive care unit transfers, cardiac arrest, or death. Traditional early warning scores (EWSs) have shown limited predictive accuracy, with frequent false positives. We conducted a prospective observational external validation study of an artificial intelligence (AI)-based EWS, the VitalCare - Major Adverse Event Score (VC-MAES), at a tertiary medical center in the Republic of Korea.
Methods:
Adult patients from general wards, including internal medicine (IM) and obstetrics and gynecology (OBGYN)—the latter were rarely investigated in prior AI-based EWS studies—were included. The VC-MAES predictions were compared with National Early Warning Score (NEWS) and Modified Early Warning Score (MEWS) predictions using the area under the receiver operating characteristic curve (AUROC), area under the precision-recall curve (AUPRC), and logistic regression for baseline EWS values. False-positives per true positive (FPpTP) were assessed based on the power threshold.
Results:
Of 6,039 encounters, 217 (3.6%) had MAEs (IM: 9.5%, OBGYN: 0.26%). Six hours prior to MAEs, the VC-MAES achieved an AUROC of 0.918 and an AUPRC of 0.352, including the OBGYN subgroup (AUROC, 0.964; AUPRC, 0.388), outperforming the NEWS (0.797 and 0.124) and MEWS (0.722 and 0.079). The FPpTP was reduced by up to 71%. Baseline VC-MAES was strongly associated with MAEs (P<0.001).
Conclusions
The VC-MAES significantly outperformed traditional EWSs in predicting adverse events in general ward patients. The robust performance and lower FPpTP suggest that broader adoption of the VC-MAES may improve clinical efficiency and resource allocation in general wards.
4.Deep Learning-Based Computer-Aided Diagnosis in Coronary Artery Calcium-Scoring CT for Pulmonary Nodule Detection: A Preliminary Study
Seung Yun LEE ; Ji Weon LEE ; Jung Im JUNG ; Kyunghwa HAN ; Suyon CHANG
Yonsei Medical Journal 2025;66(4):240-248
Purpose:
To evaluate the feasibility and utility of deep learning-based computer-aided diagnosis (DL-CAD) for the detection of pulmonary nodules on coronary artery calcium (CAC)-scoring computed tomography (CT).
Materials and Methods:
This retrospective study included 273 patients (aged 63.9±13.2 years; 129 men) who underwent CACscoring CT. A DL-CAD system based on thin-section images was used for pulmonary nodule detection, and two independent junior readers reviewed the standard CAC-scoring CT scans with and without referencing DL-CAD results. A reference standard was established through the consensus of two experienced radiologists. Sensitivity, positive predictive value, and F1-score were assessed on a per-nodule and per-patient basis. The patients’ medical records were monitored until November 2023.
Results:
A total of 269 nodules were identified in 129 patients. With DL-CAD assistance, the readers’ sensitivity significantly improved (65% vs. 80% for reader 1; 82% vs. 86% for reader 2; all p<0.001), without a notable increase in the number of false-positives per case (0.11 vs. 0.13, p=0.078 for reader 1; 0.11 vs. 0.11, p>0.999 for reader 2). Per-patient analysis also enhanced sensitivity with DL-CAD assistance (73% vs. 84%, p<0.001 for reader 1; 89% vs. 91%, p=0.250 for reader 2). During follow-up, lung cancer was diagnosed in four patients (1.5%). Among them, two had lesions detected on CAC-scoring CT, both of which were successfully identified by DL-CAD.
Conclusion
DL-CAD based on thin-section images can assist less experienced readers in detecting pulmonary nodules on CACscoring CT scans, improving detection sensitivity without significantly increasing false-positives.
5.Predicting Mortality and Cirrhosis-Related Complications with MELD3.0: A Multicenter Cohort Analysis
Jihye LIM ; Ji Hoon KIM ; Ahlim LEE ; Ji Won HAN ; Soon Kyu LEE ; Hyun YANG ; Heechul NAM ; Hae Lim LEE ; Do Seon SONG ; Sung Won LEE ; Hee Yeon KIM ; Jung Hyun KWON ; Chang Wook KIM ; U Im CHANG ; Soon Woo NAM ; Seok-Hwan KIM ; Pil Soo SUNG ; Jeong Won JANG ; Si Hyun BAE ; Jong Young CHOI ; Seung Kew YOON ; Myeong Jun SONG
Gut and Liver 2025;19(3):427-437
Background/Aims:
This study aimed to evaluate the performance of the Model for End-Stage Liver Disease (MELD) 3.0 for predicting mortality and liver-related complications compared with the Child-Pugh classification, albumin-bilirubin (ALBI) grade, the MELD, and the MELD sodium (MELDNa) score.
Methods:
We evaluated a multicenter retrospective cohort of incorporated patients with cirrhosis between 2013 and 2019. We conducted comparisons of the area under the receiver operating characteristic curve (AUROC) of the MELD3.0 and other models for predicting 3-month mortality. Additionally, we assessed the risk of cirrhosis-related complications according to the MELD3.0 score.
Results:
A total of 3,314 patients were included. The mean age was 55.9±11.3 years, and 70.2% of the patients were male. Within the initial 3 months, 220 patients (6.6%) died, and the MELD3.0had the best predictive performance among the tested models, with an AUROC of 0.851, outperforming the Child-Pugh classification, ALBI grade, MELD, and MELDNa. A high MELD3.0score was associated with an increased risk of mortality. Compared with that of the group with a MELD3.0 score <10 points, the adjusted hazard ratio of the group with a score of 10–20 pointswas 2.176, and that for the group with a score of ≥20 points was 4.892. Each 1-point increase inthe MELD3.0 score increased the risk of cirrhosis-related complications by 1.033-fold. The risk of hepatorenal syndrome showed the highest increase, with an adjusted hazard ratio of 1.149, followed by hepatic encephalopathy and ascites.
Conclusions
The MELD3.0 demonstrated robust prognostic performance in predicting mortality in patients with cirrhosis. Moreover, the MELD3.0 score was linked to cirrhosis-related complications, particularly those involving kidney function, such as hepatorenal syndrome and ascites.
6.The Cancer Clinical Library Database (CCLD) from the Korea-Clinical Data Utilization Network for Research Excellence (K-CURE) Project
Sangwon LEE ; Yeon Ho CHOI ; Hak Min KIM ; Min Ah HONG ; Phillip PARK ; In Hae KWAK ; Ye Ji KANG ; Kui Son CHOI ; Hyun-Joo KONG ; Hyosung CHA ; Hyun-Jin KIM ; Kwang Sun RYU ; Young Sang JEON ; Hwanhee KIM ; Jip Min JUNG ; Jeong-Soo IM ; Heejung CHAE
Cancer Research and Treatment 2025;57(1):19-27
The common data model (CDM) has found widespread application in healthcare studies, but its utilization in cancer research has been limited. This article describes the development and implementation strategy for Cancer Clinical Library Databases (CCLDs), which are standardized cancer-specific databases established under the Korea-Clinical Data Utilization Network for Research Excellence (K-CURE) project by the Korean Ministry of Health and Welfare. Fifteen leading hospitals and fourteen academic associations in Korea are engaged in constructing CCLDs for 10 primary cancer types. For each cancer type-specific CCLD, cancer data experts determine key clinical data items essential for cancer research, standardize these items across cancer types, and create a standardized schema. Comprehensive clinical records covering diagnosis, treatment, and outcomes, with annual updates, are collected for each cancer patient in the target population, and quality control is based on six-sigma standards. To protect patient privacy, CCLDs follow stringent data security guidelines by pseudonymizing personal identification information and operating within a closed analysis environment. Researchers can apply for access to CCLD data through the K-CURE portal, which is subject to Institutional Review Board and Data Review Board approval. The CCLD is considered a pioneering standardized cancer-specific database, significantly representing Korea’s cancer data. It is expected to overcome limitations of previous CDMs and provide a valuable resource for multicenter cancer research in Korea.
7.Predicting Mortality and Cirrhosis-Related Complications with MELD3.0: A Multicenter Cohort Analysis
Jihye LIM ; Ji Hoon KIM ; Ahlim LEE ; Ji Won HAN ; Soon Kyu LEE ; Hyun YANG ; Heechul NAM ; Hae Lim LEE ; Do Seon SONG ; Sung Won LEE ; Hee Yeon KIM ; Jung Hyun KWON ; Chang Wook KIM ; U Im CHANG ; Soon Woo NAM ; Seok-Hwan KIM ; Pil Soo SUNG ; Jeong Won JANG ; Si Hyun BAE ; Jong Young CHOI ; Seung Kew YOON ; Myeong Jun SONG
Gut and Liver 2025;19(3):427-437
Background/Aims:
This study aimed to evaluate the performance of the Model for End-Stage Liver Disease (MELD) 3.0 for predicting mortality and liver-related complications compared with the Child-Pugh classification, albumin-bilirubin (ALBI) grade, the MELD, and the MELD sodium (MELDNa) score.
Methods:
We evaluated a multicenter retrospective cohort of incorporated patients with cirrhosis between 2013 and 2019. We conducted comparisons of the area under the receiver operating characteristic curve (AUROC) of the MELD3.0 and other models for predicting 3-month mortality. Additionally, we assessed the risk of cirrhosis-related complications according to the MELD3.0 score.
Results:
A total of 3,314 patients were included. The mean age was 55.9±11.3 years, and 70.2% of the patients were male. Within the initial 3 months, 220 patients (6.6%) died, and the MELD3.0had the best predictive performance among the tested models, with an AUROC of 0.851, outperforming the Child-Pugh classification, ALBI grade, MELD, and MELDNa. A high MELD3.0score was associated with an increased risk of mortality. Compared with that of the group with a MELD3.0 score <10 points, the adjusted hazard ratio of the group with a score of 10–20 pointswas 2.176, and that for the group with a score of ≥20 points was 4.892. Each 1-point increase inthe MELD3.0 score increased the risk of cirrhosis-related complications by 1.033-fold. The risk of hepatorenal syndrome showed the highest increase, with an adjusted hazard ratio of 1.149, followed by hepatic encephalopathy and ascites.
Conclusions
The MELD3.0 demonstrated robust prognostic performance in predicting mortality in patients with cirrhosis. Moreover, the MELD3.0 score was linked to cirrhosis-related complications, particularly those involving kidney function, such as hepatorenal syndrome and ascites.
8.Deep Learning-Based Computer-Aided Diagnosis in Coronary Artery Calcium-Scoring CT for Pulmonary Nodule Detection: A Preliminary Study
Seung Yun LEE ; Ji Weon LEE ; Jung Im JUNG ; Kyunghwa HAN ; Suyon CHANG
Yonsei Medical Journal 2025;66(4):240-248
Purpose:
To evaluate the feasibility and utility of deep learning-based computer-aided diagnosis (DL-CAD) for the detection of pulmonary nodules on coronary artery calcium (CAC)-scoring computed tomography (CT).
Materials and Methods:
This retrospective study included 273 patients (aged 63.9±13.2 years; 129 men) who underwent CACscoring CT. A DL-CAD system based on thin-section images was used for pulmonary nodule detection, and two independent junior readers reviewed the standard CAC-scoring CT scans with and without referencing DL-CAD results. A reference standard was established through the consensus of two experienced radiologists. Sensitivity, positive predictive value, and F1-score were assessed on a per-nodule and per-patient basis. The patients’ medical records were monitored until November 2023.
Results:
A total of 269 nodules were identified in 129 patients. With DL-CAD assistance, the readers’ sensitivity significantly improved (65% vs. 80% for reader 1; 82% vs. 86% for reader 2; all p<0.001), without a notable increase in the number of false-positives per case (0.11 vs. 0.13, p=0.078 for reader 1; 0.11 vs. 0.11, p>0.999 for reader 2). Per-patient analysis also enhanced sensitivity with DL-CAD assistance (73% vs. 84%, p<0.001 for reader 1; 89% vs. 91%, p=0.250 for reader 2). During follow-up, lung cancer was diagnosed in four patients (1.5%). Among them, two had lesions detected on CAC-scoring CT, both of which were successfully identified by DL-CAD.
Conclusion
DL-CAD based on thin-section images can assist less experienced readers in detecting pulmonary nodules on CACscoring CT scans, improving detection sensitivity without significantly increasing false-positives.
9.Predicting Mortality and Cirrhosis-Related Complications with MELD3.0: A Multicenter Cohort Analysis
Jihye LIM ; Ji Hoon KIM ; Ahlim LEE ; Ji Won HAN ; Soon Kyu LEE ; Hyun YANG ; Heechul NAM ; Hae Lim LEE ; Do Seon SONG ; Sung Won LEE ; Hee Yeon KIM ; Jung Hyun KWON ; Chang Wook KIM ; U Im CHANG ; Soon Woo NAM ; Seok-Hwan KIM ; Pil Soo SUNG ; Jeong Won JANG ; Si Hyun BAE ; Jong Young CHOI ; Seung Kew YOON ; Myeong Jun SONG
Gut and Liver 2025;19(3):427-437
Background/Aims:
This study aimed to evaluate the performance of the Model for End-Stage Liver Disease (MELD) 3.0 for predicting mortality and liver-related complications compared with the Child-Pugh classification, albumin-bilirubin (ALBI) grade, the MELD, and the MELD sodium (MELDNa) score.
Methods:
We evaluated a multicenter retrospective cohort of incorporated patients with cirrhosis between 2013 and 2019. We conducted comparisons of the area under the receiver operating characteristic curve (AUROC) of the MELD3.0 and other models for predicting 3-month mortality. Additionally, we assessed the risk of cirrhosis-related complications according to the MELD3.0 score.
Results:
A total of 3,314 patients were included. The mean age was 55.9±11.3 years, and 70.2% of the patients were male. Within the initial 3 months, 220 patients (6.6%) died, and the MELD3.0had the best predictive performance among the tested models, with an AUROC of 0.851, outperforming the Child-Pugh classification, ALBI grade, MELD, and MELDNa. A high MELD3.0score was associated with an increased risk of mortality. Compared with that of the group with a MELD3.0 score <10 points, the adjusted hazard ratio of the group with a score of 10–20 pointswas 2.176, and that for the group with a score of ≥20 points was 4.892. Each 1-point increase inthe MELD3.0 score increased the risk of cirrhosis-related complications by 1.033-fold. The risk of hepatorenal syndrome showed the highest increase, with an adjusted hazard ratio of 1.149, followed by hepatic encephalopathy and ascites.
Conclusions
The MELD3.0 demonstrated robust prognostic performance in predicting mortality in patients with cirrhosis. Moreover, the MELD3.0 score was linked to cirrhosis-related complications, particularly those involving kidney function, such as hepatorenal syndrome and ascites.
10.The Cancer Clinical Library Database (CCLD) from the Korea-Clinical Data Utilization Network for Research Excellence (K-CURE) Project
Sangwon LEE ; Yeon Ho CHOI ; Hak Min KIM ; Min Ah HONG ; Phillip PARK ; In Hae KWAK ; Ye Ji KANG ; Kui Son CHOI ; Hyun-Joo KONG ; Hyosung CHA ; Hyun-Jin KIM ; Kwang Sun RYU ; Young Sang JEON ; Hwanhee KIM ; Jip Min JUNG ; Jeong-Soo IM ; Heejung CHAE
Cancer Research and Treatment 2025;57(1):19-27
The common data model (CDM) has found widespread application in healthcare studies, but its utilization in cancer research has been limited. This article describes the development and implementation strategy for Cancer Clinical Library Databases (CCLDs), which are standardized cancer-specific databases established under the Korea-Clinical Data Utilization Network for Research Excellence (K-CURE) project by the Korean Ministry of Health and Welfare. Fifteen leading hospitals and fourteen academic associations in Korea are engaged in constructing CCLDs for 10 primary cancer types. For each cancer type-specific CCLD, cancer data experts determine key clinical data items essential for cancer research, standardize these items across cancer types, and create a standardized schema. Comprehensive clinical records covering diagnosis, treatment, and outcomes, with annual updates, are collected for each cancer patient in the target population, and quality control is based on six-sigma standards. To protect patient privacy, CCLDs follow stringent data security guidelines by pseudonymizing personal identification information and operating within a closed analysis environment. Researchers can apply for access to CCLD data through the K-CURE portal, which is subject to Institutional Review Board and Data Review Board approval. The CCLD is considered a pioneering standardized cancer-specific database, significantly representing Korea’s cancer data. It is expected to overcome limitations of previous CDMs and provide a valuable resource for multicenter cancer research in Korea.

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