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.Efficacy of Oral Sulfate Tablet and 2 L-Polyethylene Glycol With Ascorbic Acid for Bowel Preparation: A Prospective Randomized KASID Multicenter Trial
Yunho JUNG ; Hyun Gun KIM ; Dong-Hoon YANG ; Hyoun Woo KANG ; Jae Jun PARK ; Dong Hoon BAEK ; Jaeyoung CHUN ; Tae-Geun GWEON ; Hyeon Jeong GOONG ; Min Seob KWAK ; Hyun Jung LEE ; Soo-Kyung PARK ; Jong Hoon LEE
Journal of Korean Medical Science 2024;39(48):e301-
Background:
Oral sulfate tablets (OSTs) are bowel preparation agents that combine oral sulfate solution and simethicone. This study compared the efficacy, tolerability, and safety of OST compared to 2 L-polyethylene glycol plus ascorbic acid (2 L-PEG/ASC).
Methods:
This prospective, randomized, controlled, single-blinded, multicenter, noninferiority trial enrolled 211 healthy adults who underwent colonoscopy between May 2020 and September 2022 at 13 university hospitals. The bowel cleansing rate was assessed using the Boston Bowel Preparation Scale (BBPS) and Harefield Cleansing Scale (HCS), and the preparation agents were administered in split regimens.
Results:
The total BBPS score (8.2 ± 1.5 vs. 7.8 ± 1.4, p = 0.040) and the high-quality bowel cleansing rates in the right colon (73.2% vs. 50.5), transverse colon (80.6% vs. 68.0%), and left colon (81.5% vs. 67.0%) on the BBPS were significantly higher in the OST group than in the 2 L-PEG/ASC group. However, the rates of successful cleansing according to BBPS (90.7% vs. 91.2%) and HCS (96.3% vs. 94.2%) did not significantly differ between the two groups.The taste, ease, and amount of consumption of the preparation agent; and willingness to repeat colonoscopy with the same agent (89.8% vs. 78.6%, P = 0.026) were significantly better in the OST group compared to the 2 L-PEG/ASC group. Adverse events and clinically significant laboratory changes were not significantly different between the two groups.
Conclusion
The OST was not inferior to 2 L-PEG/ASC in terms of bowel cleansing efficacy and showed better tolerability when used for bowel preparation for colonoscopy.
5.Occupation classification model based on DistilKoBERT: using the 5th and 6th Korean Working Condition Surveys
Tae-Yeon KIM ; Seong-Uk BAEK ; Myeong-Hun LIM ; Byungyoon YUN ; Domyung PAEK ; Kyung Ehi ZOH ; Kanwoo YOUN ; Yun Keun LEE ; Yangho KIM ; Jungwon KIM ; Eunsuk CHOI ; Mo-Yeol KANG ; YoonHo CHO ; Kyung-Eun LEE ; Juho SIM ; Juyeon OH ; Heejoo PARK ; Jian LEE ; Jong-Uk WON ; Yu-Min LEE ; Jin-Ha YOON
Annals of Occupational and Environmental Medicine 2024;36(1):e19-
Accurate occupation classification is essential in various fields, including policy development and epidemiological studies. This study aims to develop an occupation classification model based on DistilKoBERT. This study used data from the 5th and 6th Korean Working Conditions Surveys conducted in 2017 and 2020, respectively. A total of 99,665 survey participants, who were nationally representative of Korean workers, were included. We used natural language responses regarding their job responsibilities and occupational codes based on the Korean Standard Classification of Occupations (7th version, 3-digit codes). The dataset was randomly split into training and test datasets in a ratio of 7:3. The occupation classification model based on DistilKoBERT was fine-tuned using the training dataset, and the model was evaluated using the test dataset. The accuracy, precision, recall, and F1 score were calculated as evaluation metrics. The final model, which classified 28,996 survey participants in the test dataset into 142 occupational codes, exhibited an accuracy of 84.44%. For the evaluation metrics, the precision, recall, and F1 score of the model, calculated by weighting based on the sample size, were 0.83, 0.84, and 0.83, respectively. The model demonstrated high precision in the classification of service and sales workers yet exhibited low precision in the classification of managers. In addition, it displayed high precision in classifying occupations prominently represented in the training dataset. This study developed an occupation classification system based on DistilKoBERT, which demonstrated reasonable performance. Despite further efforts to enhance the classification accuracy, this automated occupation classification model holds promise for advancing epidemiological studies in the fields of occupational safety and health.
6.Efficacy of Oral Sulfate Tablet and 2 L-Polyethylene Glycol With Ascorbic Acid for Bowel Preparation: A Prospective Randomized KASID Multicenter Trial
Yunho JUNG ; Hyun Gun KIM ; Dong-Hoon YANG ; Hyoun Woo KANG ; Jae Jun PARK ; Dong Hoon BAEK ; Jaeyoung CHUN ; Tae-Geun GWEON ; Hyeon Jeong GOONG ; Min Seob KWAK ; Hyun Jung LEE ; Soo-Kyung PARK ; Jong Hoon LEE
Journal of Korean Medical Science 2024;39(48):e301-
Background:
Oral sulfate tablets (OSTs) are bowel preparation agents that combine oral sulfate solution and simethicone. This study compared the efficacy, tolerability, and safety of OST compared to 2 L-polyethylene glycol plus ascorbic acid (2 L-PEG/ASC).
Methods:
This prospective, randomized, controlled, single-blinded, multicenter, noninferiority trial enrolled 211 healthy adults who underwent colonoscopy between May 2020 and September 2022 at 13 university hospitals. The bowel cleansing rate was assessed using the Boston Bowel Preparation Scale (BBPS) and Harefield Cleansing Scale (HCS), and the preparation agents were administered in split regimens.
Results:
The total BBPS score (8.2 ± 1.5 vs. 7.8 ± 1.4, p = 0.040) and the high-quality bowel cleansing rates in the right colon (73.2% vs. 50.5), transverse colon (80.6% vs. 68.0%), and left colon (81.5% vs. 67.0%) on the BBPS were significantly higher in the OST group than in the 2 L-PEG/ASC group. However, the rates of successful cleansing according to BBPS (90.7% vs. 91.2%) and HCS (96.3% vs. 94.2%) did not significantly differ between the two groups.The taste, ease, and amount of consumption of the preparation agent; and willingness to repeat colonoscopy with the same agent (89.8% vs. 78.6%, P = 0.026) were significantly better in the OST group compared to the 2 L-PEG/ASC group. Adverse events and clinically significant laboratory changes were not significantly different between the two groups.
Conclusion
The OST was not inferior to 2 L-PEG/ASC in terms of bowel cleansing efficacy and showed better tolerability when used for bowel preparation for colonoscopy.
7.Efficacy of Oral Sulfate Tablet and 2 L-Polyethylene Glycol With Ascorbic Acid for Bowel Preparation: A Prospective Randomized KASID Multicenter Trial
Yunho JUNG ; Hyun Gun KIM ; Dong-Hoon YANG ; Hyoun Woo KANG ; Jae Jun PARK ; Dong Hoon BAEK ; Jaeyoung CHUN ; Tae-Geun GWEON ; Hyeon Jeong GOONG ; Min Seob KWAK ; Hyun Jung LEE ; Soo-Kyung PARK ; Jong Hoon LEE
Journal of Korean Medical Science 2024;39(48):e301-
Background:
Oral sulfate tablets (OSTs) are bowel preparation agents that combine oral sulfate solution and simethicone. This study compared the efficacy, tolerability, and safety of OST compared to 2 L-polyethylene glycol plus ascorbic acid (2 L-PEG/ASC).
Methods:
This prospective, randomized, controlled, single-blinded, multicenter, noninferiority trial enrolled 211 healthy adults who underwent colonoscopy between May 2020 and September 2022 at 13 university hospitals. The bowel cleansing rate was assessed using the Boston Bowel Preparation Scale (BBPS) and Harefield Cleansing Scale (HCS), and the preparation agents were administered in split regimens.
Results:
The total BBPS score (8.2 ± 1.5 vs. 7.8 ± 1.4, p = 0.040) and the high-quality bowel cleansing rates in the right colon (73.2% vs. 50.5), transverse colon (80.6% vs. 68.0%), and left colon (81.5% vs. 67.0%) on the BBPS were significantly higher in the OST group than in the 2 L-PEG/ASC group. However, the rates of successful cleansing according to BBPS (90.7% vs. 91.2%) and HCS (96.3% vs. 94.2%) did not significantly differ between the two groups.The taste, ease, and amount of consumption of the preparation agent; and willingness to repeat colonoscopy with the same agent (89.8% vs. 78.6%, P = 0.026) were significantly better in the OST group compared to the 2 L-PEG/ASC group. Adverse events and clinically significant laboratory changes were not significantly different between the two groups.
Conclusion
The OST was not inferior to 2 L-PEG/ASC in terms of bowel cleansing efficacy and showed better tolerability when used for bowel preparation for colonoscopy.
8.Occupation classification model based on DistilKoBERT: using the 5th and 6th Korean Working Condition Surveys
Tae-Yeon KIM ; Seong-Uk BAEK ; Myeong-Hun LIM ; Byungyoon YUN ; Domyung PAEK ; Kyung Ehi ZOH ; Kanwoo YOUN ; Yun Keun LEE ; Yangho KIM ; Jungwon KIM ; Eunsuk CHOI ; Mo-Yeol KANG ; YoonHo CHO ; Kyung-Eun LEE ; Juho SIM ; Juyeon OH ; Heejoo PARK ; Jian LEE ; Jong-Uk WON ; Yu-Min LEE ; Jin-Ha YOON
Annals of Occupational and Environmental Medicine 2024;36(1):e19-
Accurate occupation classification is essential in various fields, including policy development and epidemiological studies. This study aims to develop an occupation classification model based on DistilKoBERT. This study used data from the 5th and 6th Korean Working Conditions Surveys conducted in 2017 and 2020, respectively. A total of 99,665 survey participants, who were nationally representative of Korean workers, were included. We used natural language responses regarding their job responsibilities and occupational codes based on the Korean Standard Classification of Occupations (7th version, 3-digit codes). The dataset was randomly split into training and test datasets in a ratio of 7:3. The occupation classification model based on DistilKoBERT was fine-tuned using the training dataset, and the model was evaluated using the test dataset. The accuracy, precision, recall, and F1 score were calculated as evaluation metrics. The final model, which classified 28,996 survey participants in the test dataset into 142 occupational codes, exhibited an accuracy of 84.44%. For the evaluation metrics, the precision, recall, and F1 score of the model, calculated by weighting based on the sample size, were 0.83, 0.84, and 0.83, respectively. The model demonstrated high precision in the classification of service and sales workers yet exhibited low precision in the classification of managers. In addition, it displayed high precision in classifying occupations prominently represented in the training dataset. This study developed an occupation classification system based on DistilKoBERT, which demonstrated reasonable performance. Despite further efforts to enhance the classification accuracy, this automated occupation classification model holds promise for advancing epidemiological studies in the fields of occupational safety and health.
9.Occupation classification model based on DistilKoBERT: using the 5th and 6th Korean Working Condition Surveys
Tae-Yeon KIM ; Seong-Uk BAEK ; Myeong-Hun LIM ; Byungyoon YUN ; Domyung PAEK ; Kyung Ehi ZOH ; Kanwoo YOUN ; Yun Keun LEE ; Yangho KIM ; Jungwon KIM ; Eunsuk CHOI ; Mo-Yeol KANG ; YoonHo CHO ; Kyung-Eun LEE ; Juho SIM ; Juyeon OH ; Heejoo PARK ; Jian LEE ; Jong-Uk WON ; Yu-Min LEE ; Jin-Ha YOON
Annals of Occupational and Environmental Medicine 2024;36(1):e19-
Accurate occupation classification is essential in various fields, including policy development and epidemiological studies. This study aims to develop an occupation classification model based on DistilKoBERT. This study used data from the 5th and 6th Korean Working Conditions Surveys conducted in 2017 and 2020, respectively. A total of 99,665 survey participants, who were nationally representative of Korean workers, were included. We used natural language responses regarding their job responsibilities and occupational codes based on the Korean Standard Classification of Occupations (7th version, 3-digit codes). The dataset was randomly split into training and test datasets in a ratio of 7:3. The occupation classification model based on DistilKoBERT was fine-tuned using the training dataset, and the model was evaluated using the test dataset. The accuracy, precision, recall, and F1 score were calculated as evaluation metrics. The final model, which classified 28,996 survey participants in the test dataset into 142 occupational codes, exhibited an accuracy of 84.44%. For the evaluation metrics, the precision, recall, and F1 score of the model, calculated by weighting based on the sample size, were 0.83, 0.84, and 0.83, respectively. The model demonstrated high precision in the classification of service and sales workers yet exhibited low precision in the classification of managers. In addition, it displayed high precision in classifying occupations prominently represented in the training dataset. This study developed an occupation classification system based on DistilKoBERT, which demonstrated reasonable performance. Despite further efforts to enhance the classification accuracy, this automated occupation classification model holds promise for advancing epidemiological studies in the fields of occupational safety and health.
10.Efficacy of Oral Sulfate Tablet and 2 L-Polyethylene Glycol With Ascorbic Acid for Bowel Preparation: A Prospective Randomized KASID Multicenter Trial
Yunho JUNG ; Hyun Gun KIM ; Dong-Hoon YANG ; Hyoun Woo KANG ; Jae Jun PARK ; Dong Hoon BAEK ; Jaeyoung CHUN ; Tae-Geun GWEON ; Hyeon Jeong GOONG ; Min Seob KWAK ; Hyun Jung LEE ; Soo-Kyung PARK ; Jong Hoon LEE
Journal of Korean Medical Science 2024;39(48):e301-
Background:
Oral sulfate tablets (OSTs) are bowel preparation agents that combine oral sulfate solution and simethicone. This study compared the efficacy, tolerability, and safety of OST compared to 2 L-polyethylene glycol plus ascorbic acid (2 L-PEG/ASC).
Methods:
This prospective, randomized, controlled, single-blinded, multicenter, noninferiority trial enrolled 211 healthy adults who underwent colonoscopy between May 2020 and September 2022 at 13 university hospitals. The bowel cleansing rate was assessed using the Boston Bowel Preparation Scale (BBPS) and Harefield Cleansing Scale (HCS), and the preparation agents were administered in split regimens.
Results:
The total BBPS score (8.2 ± 1.5 vs. 7.8 ± 1.4, p = 0.040) and the high-quality bowel cleansing rates in the right colon (73.2% vs. 50.5), transverse colon (80.6% vs. 68.0%), and left colon (81.5% vs. 67.0%) on the BBPS were significantly higher in the OST group than in the 2 L-PEG/ASC group. However, the rates of successful cleansing according to BBPS (90.7% vs. 91.2%) and HCS (96.3% vs. 94.2%) did not significantly differ between the two groups.The taste, ease, and amount of consumption of the preparation agent; and willingness to repeat colonoscopy with the same agent (89.8% vs. 78.6%, P = 0.026) were significantly better in the OST group compared to the 2 L-PEG/ASC group. Adverse events and clinically significant laboratory changes were not significantly different between the two groups.
Conclusion
The OST was not inferior to 2 L-PEG/ASC in terms of bowel cleansing efficacy and showed better tolerability when used for bowel preparation for colonoscopy.

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