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.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.
3.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.
4.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.
5.Patients participation in multidisciplinary management in gastric cancer: regulation comparison and expert survey among major countries
Kyoyoung PARK ; Hyuk-Joon LEE ; Seong-Ho KONG ; Do Joong PARK ; Hyunsoo CHUNG ; Soo-Jeong CHO ; Seock-Ah IM ; Yoonjin KWAK ; Hye Seung LEE ; Eui Kyu CHIE ; Jimmy Bok Yan SO ; Zekuan XU ; Narikazu BOKU ; Jiafu JI ; Yuko KITAGAWA ; Raul J ROSENTHAL ; Takeshi SANO ; Han-Kwang YANG
Korean Journal of Clinical Oncology 2025;21(3):143-149
Purpose:
In Korea, the Health Insurance Review and Assessment Service (HIRA) mandates patient participation in outpatient multidisciplinary team (MDT) meetings as part of national cancer quality assessment. However, the necessity of involving patients and families in MDT discussions remains debatable. This study explored international expert perspectives on patient participation in gastric cancer MDTs.
Methods:
A cross-national expert survey was conducted in September 2021 among 15 gastric cancer specialists from Korea, China, Japan, Singapore, and the United States. The survey assessed the frequency of patient and family member attendance, perceived pros and cons, and preferences regarding mandatory versus selective involvement. Additionally, MDT structures and policies were reviewed by countries.
Results:
Most respondents reported that patients and families rarely or never attend MDT meetings: nine stated that patients are never included, three reported “usually not,” and three indicated “sometimes.” None consistently included patients. The most cited benefits were sharing opinions with patients and families simultaneously, followed by improved explanation of treatment and legal protection. Major concerns included hindered discussion, inefficiency, and logistical challenges. Only four respondents supported routine participation, while 11 favored case-dependent involvement.
Conclusion
International experts do not widely support mandatory patient participation in MDT meetings. A flexible approach that allows MDTs to operate with or without patient involvement may better reflect actual clinical practice.
6.Effects of the Floating Nurse System on Individual and Organizational Outcomes: A Pilot Study
Eun Hye KIM ; Ji Hye LEE ; Hyo Min IM ; So Ra AN ; Jin Hyun KIM ; Min Ho JUNG
Journal of Korean Clinical Nursing Research 2025;31(3):234-243
Purpose:
This pilot study aimed to evaluate the effects of the Floating Nurse system designed to improve nurses’ shift work conditions on individual and organizational outcomes.
Methods:
A non-equivalent posttest-only control group design was used. Individual-level data on job satisfaction, work-life balance, and turnover intention were collected through anonymous self-administered questionnaires from January 16 to 27, 2023, six months after system implementation. Organizational-level turnover rates were obtained from administrative records for the period before and after implementation (January-June and July-December 2022). The study included 352 nurses from 38 general wards at a tertiary hospital in Seoul-250 from 27 wards where the system was implemented (participation group) and 102 from 11 wards without the system (non-participation group).Multilevel modeling was applied, accounting for individual-level (Level 1) and ward-level (Level 2) factors.
Results:
Job satisfaction was significantly higher in the participation group than in the non-participation group (B=2.28, p=.008). Work-life balance was higher but not statistically significant (B=4.10, p=.120), and turnover intention showed no significant difference (B=-0.48, p=.204). Turnover rates decreased in both groups, with a larger reduction in the participation group (from 2.5% to 1.8%) than in the non-participation group (from 4.5% to 3.5%).
Conclusion
The Floating Nurse System improved job satisfaction and contributed to lower turnover rates, suggesting potential benefits for workforce stability. Although improvements in work-life balance and turnover intention were not statistically significant, enhanced job satisfaction may indirectly mitigate turnover intention. Further multi-site and longitudinal studies are warranted to confirm long-term effects.
7.Association Between Psychotic Symptoms of Mood Disorders and Hematologic Findings Related to Inflammation: A Retrospective Study
Yoon-Seok OH ; Woo-Young IM ; Sang-Ho SHIN ; Jae-Chang LEE ; Ji-Woong KIM ; Seung-Jun KIM ; Na-Hyun LEE ; Hong-Seok OH
Korean Journal of Psychosomatic Medicine 2024;32(2):77-86
Objectives:
:This study was aimed to determine whether the presence or absence of psychotic symptoms inmood disorders is statistically significantly related to the difference between NLR, MLR, PLR.
Methods:
:We retrospectively reviewed the medical records of 408 patients who were hospitalized with a diagnosis of bipolar disorder type 1 (BP-I) and major depressive disorder (MDD) and underwent complete blood count.Groups were divided based on the presence or absence of psychotic symptoms. The statistical significance of the differences in NLR, MLR, and PLR between each group was examined using t-test.
Results:
:When 382 mood disorder patients were divided into groups based solely on the presence or absence ofpsychotic symptoms, the difference between NLR and MLR was statistically significant (NLR: p=0.009, MLR:p=0.016). When dividing the mood disorder patients into subgroups of 176 BP-I patients and 206 MDD patients and using the same method for each subgroup, the tendency for higher NLR and MLR was maintained, but the sta-tistical significance disappeared.
Conclusions
:This study suggests the possibility of relationship between psychotic symptoms and NLR and MLR in mood disorders, but additional research appears to be necessary to clarify the possibility.
8.Clinical characteristics of toxoplasmosis patients in Korea: A retrospective study using health insurance review and assessment service data and electronic medical records
Do-Won HAM ; Bong-Kwang JUNG ; Ji-Hun SHIN ; Yong Joon KIM ; Kyoung Yul SEO ; Seung Mi LEE ; Jae Hyoung IM ; Jeong-Ran KWON ; Ho-Sung LEE ; Kyung-Won HWANG ; Eun-Hee SHIN
Parasites, Hosts and Diseases 2024;62(4):424-437
This study aimed to elucidate the clinical characteristics of patients diagnosed with toxoplasmosis in Korea. We collected and analyzed the specific research data of 5,917 patients from the Health Insurance Review and Assessment (HIRA; 2007–2020) and 533 electronic medical records (EMRs; 2003–2021) of Korean patients. The HIRA data showed that toxoplasmosis is an endemic disease that occurs constantly in Korea, with a large proportion of patients complaining of ocular symptoms. Of the 533 patients for whom EMR data were available, 54.6% were diagnosed with toxoplasmosis; ocular toxoplasmosis (35.7%), congenital toxoplasmosis (4.7%), cerebral toxoplasmosis (4.1%), pulmonary toxoplasmosis (0.4%), and toxoplasma hepatitis (0.6%), in order of frequency. In ocular cases, 54.4% of the patients had diverse ocular pathologies. Toxoplasmosis in Korea is characterized by a high frequency of ocular symptoms, most patients are adults, and 51.8% of patients with seropositivity were positive for IgG, suggesting prior infection. This study highlights that patients with ocular symptoms are included in the major diagnosis group for acquired toxoplasmosis in Korea.
9.Clinical characteristics of toxoplasmosis patients in Korea: A retrospective study using health insurance review and assessment service data and electronic medical records
Do-Won HAM ; Bong-Kwang JUNG ; Ji-Hun SHIN ; Yong Joon KIM ; Kyoung Yul SEO ; Seung Mi LEE ; Jae Hyoung IM ; Jeong-Ran KWON ; Ho-Sung LEE ; Kyung-Won HWANG ; Eun-Hee SHIN
Parasites, Hosts and Diseases 2024;62(4):424-437
This study aimed to elucidate the clinical characteristics of patients diagnosed with toxoplasmosis in Korea. We collected and analyzed the specific research data of 5,917 patients from the Health Insurance Review and Assessment (HIRA; 2007–2020) and 533 electronic medical records (EMRs; 2003–2021) of Korean patients. The HIRA data showed that toxoplasmosis is an endemic disease that occurs constantly in Korea, with a large proportion of patients complaining of ocular symptoms. Of the 533 patients for whom EMR data were available, 54.6% were diagnosed with toxoplasmosis; ocular toxoplasmosis (35.7%), congenital toxoplasmosis (4.7%), cerebral toxoplasmosis (4.1%), pulmonary toxoplasmosis (0.4%), and toxoplasma hepatitis (0.6%), in order of frequency. In ocular cases, 54.4% of the patients had diverse ocular pathologies. Toxoplasmosis in Korea is characterized by a high frequency of ocular symptoms, most patients are adults, and 51.8% of patients with seropositivity were positive for IgG, suggesting prior infection. This study highlights that patients with ocular symptoms are included in the major diagnosis group for acquired toxoplasmosis in Korea.
10.Association Between Psychotic Symptoms of Mood Disorders and Hematologic Findings Related to Inflammation: A Retrospective Study
Yoon-Seok OH ; Woo-Young IM ; Sang-Ho SHIN ; Jae-Chang LEE ; Ji-Woong KIM ; Seung-Jun KIM ; Na-Hyun LEE ; Hong-Seok OH
Korean Journal of Psychosomatic Medicine 2024;32(2):77-86
Objectives:
:This study was aimed to determine whether the presence or absence of psychotic symptoms inmood disorders is statistically significantly related to the difference between NLR, MLR, PLR.
Methods:
:We retrospectively reviewed the medical records of 408 patients who were hospitalized with a diagnosis of bipolar disorder type 1 (BP-I) and major depressive disorder (MDD) and underwent complete blood count.Groups were divided based on the presence or absence of psychotic symptoms. The statistical significance of the differences in NLR, MLR, and PLR between each group was examined using t-test.
Results:
:When 382 mood disorder patients were divided into groups based solely on the presence or absence ofpsychotic symptoms, the difference between NLR and MLR was statistically significant (NLR: p=0.009, MLR:p=0.016). When dividing the mood disorder patients into subgroups of 176 BP-I patients and 206 MDD patients and using the same method for each subgroup, the tendency for higher NLR and MLR was maintained, but the sta-tistical significance disappeared.
Conclusions
:This study suggests the possibility of relationship between psychotic symptoms and NLR and MLR in mood disorders, but additional research appears to be necessary to clarify the possibility.

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