1.Target-Enhanced Whole-Genome Sequencing Shows Clinical Validity Equivalent to Commercially Available Targeted Oncology Panel
Sangmoon LEE ; Jin ROH ; Jun Sung PARK ; Islam Oguz TUNCAY ; Wonchul LEE ; Jung-Ah KIM ; Brian Baek-Lok OH ; Jong-Yeon SHIN ; Jeong Seok LEE ; Young Seok JU ; Ryul KIM ; Seongyeol PARK ; Jaemo KOO ; Hansol PARK ; Joonoh LIM ; Erin CONNOLLY-STRONG ; Tae-Hwan KIM ; Yong Won CHOI ; Mi Sun AHN ; Hyun Woo LEE ; Seokhwi KIM ; Jang-Hee KIM ; Minsuk KWON
Cancer Research and Treatment 2025;57(2):350-361
Purpose:
Cancer poses a significant global health challenge, demanding precise genomic testing for individualized treatment strategies. Targeted-panel sequencing (TPS) has improved personalized oncology but often lacks comprehensive coverage of crucial cancer alterations. Whole-genome sequencing (WGS) addresses this gap, offering extensive genomic testing. This study demonstrates the medical potential of WGS.
Materials and Methods:
This study evaluates target-enhanced WGS (TE-WGS), a clinical-grade WGS method sequencing both cancer and matched normal tissues. Forty-nine patients with various solid cancer types underwent both TE-WGS and TruSight Oncology 500 (TSO500), one of the mainstream TPS approaches.
Results:
TE-WGS detected all variants reported by TSO500 (100%, 498/498). A high correlation in variant allele fractions was observed between TE-WGS and TSO500 (r=0.978). Notably, 223 variants (44.8%) within the common set were discerned exclusively by TE-WGS in peripheral blood, suggesting their germline origin. Conversely, the remaining subset of 275 variants (55.2%) were not detected in peripheral blood using the TE-WGS, signifying them as bona fide somatic variants. Further, TE-WGS provided accurate copy number profiles, fusion genes, microsatellite instability, and homologous recombination deficiency scores, which were essential for clinical decision-making.
Conclusion
TE-WGS is a comprehensive approach in personalized oncology, matching TSO500’s key biomarker detection capabilities. It uniquely identifies germline variants and genomic instability markers, offering additional clinical actions. Its adaptability and cost-effectiveness underscore its clinical utility, making TE-WGS a valuable tool in personalized cancer treatment.
2.Target-Enhanced Whole-Genome Sequencing Shows Clinical Validity Equivalent to Commercially Available Targeted Oncology Panel
Sangmoon LEE ; Jin ROH ; Jun Sung PARK ; Islam Oguz TUNCAY ; Wonchul LEE ; Jung-Ah KIM ; Brian Baek-Lok OH ; Jong-Yeon SHIN ; Jeong Seok LEE ; Young Seok JU ; Ryul KIM ; Seongyeol PARK ; Jaemo KOO ; Hansol PARK ; Joonoh LIM ; Erin CONNOLLY-STRONG ; Tae-Hwan KIM ; Yong Won CHOI ; Mi Sun AHN ; Hyun Woo LEE ; Seokhwi KIM ; Jang-Hee KIM ; Minsuk KWON
Cancer Research and Treatment 2025;57(2):350-361
Purpose:
Cancer poses a significant global health challenge, demanding precise genomic testing for individualized treatment strategies. Targeted-panel sequencing (TPS) has improved personalized oncology but often lacks comprehensive coverage of crucial cancer alterations. Whole-genome sequencing (WGS) addresses this gap, offering extensive genomic testing. This study demonstrates the medical potential of WGS.
Materials and Methods:
This study evaluates target-enhanced WGS (TE-WGS), a clinical-grade WGS method sequencing both cancer and matched normal tissues. Forty-nine patients with various solid cancer types underwent both TE-WGS and TruSight Oncology 500 (TSO500), one of the mainstream TPS approaches.
Results:
TE-WGS detected all variants reported by TSO500 (100%, 498/498). A high correlation in variant allele fractions was observed between TE-WGS and TSO500 (r=0.978). Notably, 223 variants (44.8%) within the common set were discerned exclusively by TE-WGS in peripheral blood, suggesting their germline origin. Conversely, the remaining subset of 275 variants (55.2%) were not detected in peripheral blood using the TE-WGS, signifying them as bona fide somatic variants. Further, TE-WGS provided accurate copy number profiles, fusion genes, microsatellite instability, and homologous recombination deficiency scores, which were essential for clinical decision-making.
Conclusion
TE-WGS is a comprehensive approach in personalized oncology, matching TSO500’s key biomarker detection capabilities. It uniquely identifies germline variants and genomic instability markers, offering additional clinical actions. Its adaptability and cost-effectiveness underscore its clinical utility, making TE-WGS a valuable tool in personalized cancer treatment.
3.Target-Enhanced Whole-Genome Sequencing Shows Clinical Validity Equivalent to Commercially Available Targeted Oncology Panel
Sangmoon LEE ; Jin ROH ; Jun Sung PARK ; Islam Oguz TUNCAY ; Wonchul LEE ; Jung-Ah KIM ; Brian Baek-Lok OH ; Jong-Yeon SHIN ; Jeong Seok LEE ; Young Seok JU ; Ryul KIM ; Seongyeol PARK ; Jaemo KOO ; Hansol PARK ; Joonoh LIM ; Erin CONNOLLY-STRONG ; Tae-Hwan KIM ; Yong Won CHOI ; Mi Sun AHN ; Hyun Woo LEE ; Seokhwi KIM ; Jang-Hee KIM ; Minsuk KWON
Cancer Research and Treatment 2025;57(2):350-361
Purpose:
Cancer poses a significant global health challenge, demanding precise genomic testing for individualized treatment strategies. Targeted-panel sequencing (TPS) has improved personalized oncology but often lacks comprehensive coverage of crucial cancer alterations. Whole-genome sequencing (WGS) addresses this gap, offering extensive genomic testing. This study demonstrates the medical potential of WGS.
Materials and Methods:
This study evaluates target-enhanced WGS (TE-WGS), a clinical-grade WGS method sequencing both cancer and matched normal tissues. Forty-nine patients with various solid cancer types underwent both TE-WGS and TruSight Oncology 500 (TSO500), one of the mainstream TPS approaches.
Results:
TE-WGS detected all variants reported by TSO500 (100%, 498/498). A high correlation in variant allele fractions was observed between TE-WGS and TSO500 (r=0.978). Notably, 223 variants (44.8%) within the common set were discerned exclusively by TE-WGS in peripheral blood, suggesting their germline origin. Conversely, the remaining subset of 275 variants (55.2%) were not detected in peripheral blood using the TE-WGS, signifying them as bona fide somatic variants. Further, TE-WGS provided accurate copy number profiles, fusion genes, microsatellite instability, and homologous recombination deficiency scores, which were essential for clinical decision-making.
Conclusion
TE-WGS is a comprehensive approach in personalized oncology, matching TSO500’s key biomarker detection capabilities. It uniquely identifies germline variants and genomic instability markers, offering additional clinical actions. Its adaptability and cost-effectiveness underscore its clinical utility, making TE-WGS a valuable tool in personalized cancer treatment.
4.A Silent Outbreak of Hepatitis E Virus (HEV) Infection or FalsePositive Reaction of Anti-HEV IgM after COVID-19 Vaccination? Epidemiological Investigation of an Outbreak in a Korean Factory Complex in 2022
Jeonghyeon OH ; Gwang Hyeon CHOI ; Yeonhwa CHANG ; Jina KIM ; Kunhee PARK ; Hansol YEOM ; Soonryu SEO ; Jin GWACK ; Sook-Hyang JEONG
Gut and Liver 2024;18(3):531-538
Background/Aims:
To investigate a reported outbreak of presumed hepatitis E virus (HEV) infection in a Korean food manufacturing facility and to explore the association between anti-HEV immunoglobulin M (IgM) positivity and coronavirus disease 2019 (COVID-19) infection or vaccination.
Methods:
Twenty-four cases of anti-HEV IgM positivity were reported among 646 workers at the facility in 2022. An epidemiological investigation was conducted, comprising HEV-RNA testing of blood and environmental samples, analysis of group meal records, and an association between anti-HEV IgM positivity and confirmed COVID-19 infection or vaccination.
Results:
All 24 patients were asymptomatic, with cases spread sporadically across the facility. HEV RNA was not detected in the serum or environmental samples. Four out of 340 meals (1.2%) showed a significantly higher proportion of anti-HEV positivity in each meal intake group than in the non-intake group on certain days. Although the cumulative rate of COVID-19 infection showed no difference, the anti-HEV IgM positive group showed significantly higher proportions of >2 doses of COVID-19 vaccination (83.3% vs 48.7%, p=0.021), vaccination within 90 days (45.8% vs 19.7%, p=0.008), and having the Moderna vaccine administered as the last vaccine (75.0% vs 14.5%, p<0.001) than those of the anti-HEV negative group. In four multivariable models, three or more COVID-19 vaccinations and the Moderna vaccine as the last vaccine were consistently associated with anti-HEV IgM positivity, while the specific day group meal intake was also a significant factor.
Conclusions
This epidemiological investigation showed that anti-HEV IgM positivity may occur as a false-positive result related to COVID-vaccination over three times and use of the Moderna vaccine, although a portion of true HEV infection may not be excluded.
5.A case report of brain activity during mastication
Ji-Hye KIM ; Hansol LEE ; So-Yeun KIM ; Sung Ho JANG ; Yongmin CHANG ; Youn-Hee CHOI
Journal of Korean Academy of Oral Health 2023;47(4):197-201
Objectives:
The aim of this study was to evaluate brain activity in youth during chewing gum and wood stick using functional magnetic resonance imaging (fMRI).
Methods:
Two participants chewed wax gums and wood stick on the rhythm of 1 Hz during MRI scanning. The task paradigm was a block design and each chewing-rest procedure was repeated five times for 30s.
Results:
The brain regions activated during chewing gum and wood stick were the precentral gyrus, postcentral gyrus, supplementary motor area, thalamus cerebellum. The medial prefrontal cortex (mPFC), anterior cingulate cortex (ACC), hippocampus, and precuneus were additionally activated by mastication of the wood stick. Brain activation induced by chewing wood stick was higher than chewing gum.
Conclusions
Our results suggest that mastication contribute to cognitive improvement through brain activity, this effect is stronger during chewing wood than gum. Therefore, eating harder foods may improve cognitive function more effectively.
6.Detecting mpox infection in the early epidemic: an epidemiologic investigation of the third and fourth cases in Korea
Taeyoung KIM ; Eonjoo PARK ; Jun Suk EUN ; Eun-young LEE ; Ji Won MUN ; Yunsang CHOI ; Shinyoung LEE ; Hansol YEOM ; Eunkyoung KIM ; Jongmu KIM ; Jihyun CHOI ; Jinho HA ; Sookkyung PARK
Epidemiology and Health 2023;45(1):e2023040-
OBJECTIVES:
As few mpox cases have been reported in Korea, we aimed to identify the characteristics of mpox infection by describing our epidemiologic investigation of a woman patient (index patient, the third case in Korea) and a physician who was infected by a needlestick injury (the fourth case).
METHODS:
We conducted contact tracing and exposure risk evaluation through interviews with these 2 patients and their physicians and contacts, as well as field investigations at each facility visited by the patients during their symptomatic periods. We then classified contacts into 3 levels according to their exposure risk and managed them to minimize further transmission by recommending quarantine and vaccination for post-exposure prophylaxis and monitoring their symptoms.
RESULTS:
The index patient had sexual contact with a man foreigner during a trip to Dubai, which was considered the probable route of transmission. In total, 27 healthcare-associated contacts across 7 healthcare facilities and 9 community contacts were identified. These contacts were classified into high (7 contacts), medium (9 contacts), and low (20 contacts) exposure risk groups. One high-risk contact was identified as a secondary patient: a physician who was injured while collecting specimens from the index patient.
CONCLUSIONS
The index patient visited several medical facilities due to progressive symptoms prior to isolation. Although the 2022 mpox epidemic mainly affected young men, especially men who have sex with men, physicians should also consider mpox transmission in the general population for the timely detection of mpox-infected patients.
7.Weight Changes and Unhealthy Weight Control Behaviors Are Associated With Dysmenorrhea in Young Women
Kyunghee HAN ; Nam-Kyoo LIM ; Hansol CHOI ; Bo Mi SONG ; Hyun-Young PARK
Journal of Korean Medical Science 2023;38(18):e136-
Background:
This study aimed to evaluate the prevalence of dysmenorrhea and to investigate the effect of weight changes or unhealthy weight control behaviors on dysmenorrhea in young Korean women.
Methods:
We used large-scale data of women, aged 14 to 44 years, who participated in the Korean Study of Women’s Health-Related Issues. Dysmenorrhea was measured using a visual analog scale and was categorized as none, mild, moderate, and severe according to the severity. Weight changes and unhealthy weight control behaviors (any of the behaviors, fasting/meal skipping, drugs, the use of unapproved dietary supplements, and one-food diets) over the past year were self-reported. We used multinomial logistic regression to investigate the association between weight changes or unhealthy weight control behaviors and dysmenorrhea.
Results:
Of the 5,829 young women participating in the study, 5,245 (90.0%) participants experienced dysmenorrhea [2,184 (37.5%) had moderate and 1,358 (23.3%) had severe].After adjusting for confounders, the odds ratios for moderate and severe dysmenorrhea in participants with weight changes ≥ 3 kg (vs. < 3 kg) were 1.19 (95% confidence interval:1.05–1.35) and 1.25 (95% confidence interval: 1.08–1.45), respectively. The odds ratios in participants with any unhealthy weight control behaviors were 1.22 (95% confidence interval:1.04–1.42) and 1.41 (95% confidence interval: 1.19–1.67) for those with moderate and severe dysmenorrhea, respectively.
Conclusion
Weight changes (≥ 3 kg) or unhealthy weight control behaviors are common among young women, which may adversely affect dysmenorrhea. Therefore, attention needs to be paid to excessive weight changes and unhealthy weight control behaviors to improve dysmenorrhea in young women.
8.Diesel Exhaust Particles Impair Therapeutic Effect of Human Wharton’s Jelly-Derived Mesenchymal Stem Cells against Experimental Colitis through ROS/ERK/cFos Signaling Pathway
Hyun Sung PARK ; Mi-Kyung OH ; Joong Won LEE ; Dong-Hoon CHAE ; Hansol JOO ; Ji Yeon KANG ; Hye Bin AN ; Aaron YU ; Jae Han PARK ; Hee Min YOO ; Hyun Jun JUNG ; Uimook CHOI ; Ji-Won JUNG ; In-Sook KIM ; Il-Hoan OH ; Kyung-Rok YU
International Journal of Stem Cells 2022;15(2):203-216
Background and Objectives:
Epidemiological investigations have shown positive correlations between increased diesel exhaust particles (DEP) in ambient air and adverse health outcomes. DEP are the major constituent of particulate atmospheric pollution and have been shown to induce proinflammatory responses both in the lung and systemically. Here, we report the effects of DEP exposure on the properties of human Wharton’s jelly-derived mesenchymal stem cells (WJ-MSCs), including stemness, regeneration, and immunomodulation.
Methods:
and Results: Non-apoptotic concentrations of DEP (10 μg/ml) inhibited the migration and osteogenic differentiation capacity of WJ-MSCs. Gene expression profiling showed that DEP increased intracellular reactive oxygen species (ROS) and expression of pro-inflammatory and metabolic-process-related genes including cFos. Furthermore, WJ-MSCs cultured with DEP showed impaired suppression of T cell proliferation that was reversed by inhibition of ROS or knockdown of cFos. ERK inhibition assay revealed that DEP-induced ROS regulated cFos through activation of ERK but not NF-κB signaling. Overall, low concentrations of DEP (10 μg/ml) significantly suppressed the stemness and immunomodulatory properties of WJ-MSCs through ROS/ERK/cFos signaling pathways. Furthermore, WJ-MSCs cultured with DEP impaired the therapeutic effect of WJ-MSCs in experimental colitis mice, but was partly reversed by inhibition of ROS.
Conclusions
Taken together, these results indicate that exposure to DEP enhances the expression of pro-inflammatory cytokines and immune responses through a mechanism involving the ROS/ERK/cFos pathway in WJ-MSCs, and that DEP-induced ROS damage impairs the therapeutic effect of WJ-MSCs in colitis. Our results suggest that modulation of ROS/ERK/cFos signaling pathways in WJ-MSCs might be a novel therapeutic strategy for DEP-induced diseases.
9.Use of Menstrual Sanitary Products in Women of Reproductive Age: Korea Nurses’ Health Study
Hansol CHOI ; Nam-Kyoo LIM ; Heeja JUNG ; Oksoo KIM ; Hyun-Young PARK
Osong Public Health and Research Perspectives 2021;12(1):20-28
Objectives:
The use of menstrual hygiene products and its effect on women’s health remains under studied. Patterns of menstrual hygiene product use and the rationale behind choices among Korean women aged 18-45 years were examined.
Methods:
This cross-sectional study was a part of the Korea Nurses’ Health Study. A total of 20,613 nurses participated, and 8,658 nurses participated in Module 7 which included a menstrual hygiene productsrelated survey. The data were collected through the mobile survey using a self-reported questionnaire.Participants’ use of menstrual hygiene products and related characteristics were analyzed using frequency (percentage) or mean (SD).
Results:
The most common types of menstrual hygiene products across all age groups were disposable menstrual pads (89.0%), followed by cloth menstrual pads (4.5%), tampons (4.2%), and only 1.6% used a menstrual cup. Disposable menstrual pads were the most common across all age groups, but in those aged under 30 years this was followed by tampon use (6%). The most important criteria when choosing a menstrual hygiene product was comfort for disposable menstrual pads (31.3%) and tampons (41.5%), natural ingredients or organic products for cloth menstrual pads (51.4%), and custom fit for the menstrual cup (50.7%). However, for all menstrual hygiene products (except cloth menstrual pads), there was a higher proportion of anxiety than perception of safety, and low awareness of toxic shock syndrome.
Conclusion
It is important for women to use menstrual hygiene products with confidence. More research is needed to better understand potential health effects of menstrual hygiene products.
10.Comparative Cardiovascular Risks of Dipeptidyl Peptidase-4 Inhibitors: Analyses of Real-world Data in Korea
Kyoung Hwa HA ; Bongseong KIM ; Hae Sol SHIN ; Jinhee LEE ; Hansol CHOI ; Hyeon Chang KIM ; Dae Jung KIM
Korean Circulation Journal 2018;48(5):395-405
BACKGROUND AND OBJECTIVES: To compare cardiovascular disease (CVD) risk associated with 5 different dipeptidyl peptidase-4 inhibitors (DPP-4is) in people with type 2 diabetes. METHODS: We identified 534,327 people who were newly prescribed sitagliptin (n=167,157), vildagliptin (n=67,412), saxagliptin (n=29,479), linagliptin (n=220,672), or gemigliptin (n=49,607) between January 2013 and June 2015 using the claims database of the Korean National Health Insurance System. A Cox proportional hazards model was used to estimate hazard ratios (HRs) for major CVD events (myocardial infarction, stroke, or death) among users of different DPP-4is. The model was adjusted for sex, age, duration of DPP-4i use, use of other glucose-lowering drugs, use of antiplatelet agents, hypertension, dyslipidemia, atrial fibrillation, chronic kidney disease, microvascular complications of diabetes, Charlson comorbidity index, and the calendar index year as potential confounders. RESULTS: Compared to sitagliptin users, the fully adjusted HRs for CVD events were 0.97 (95% confidence interval [CI], 0.94–1.01; p=0.163) for vildagliptin, 0.76 (95% CI, 0.71–0.81; p < 0.001) for saxagliptin, 0.95 (95% CI, 0.92–0.98; p < 0.001) for linagliptin, and 0.84 (95% CI, 0.80–0.88; p < 0.001) for gemigliptin. CONCLUSIONS: Compared to sitagliptin therapy, saxagliptin, linagliptin, and gemigliptin therapies were all associated with a lower risk of cardiovascular events.
Atrial Fibrillation
;
Cardiovascular Diseases
;
Comorbidity
;
Diabetes Mellitus, Type 2
;
Dipeptidyl-Peptidase IV Inhibitors
;
Dyslipidemias
;
Hypertension
;
Infarction
;
Korea
;
Linagliptin
;
National Health Programs
;
Platelet Aggregation Inhibitors
;
Proportional Hazards Models
;
Renal Insufficiency, Chronic
;
Sitagliptin Phosphate
;
Stroke

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