1.COCAW: A Genome-wide Pattern Search System for Designing Microbial Probes.
Seunghee RYU ; Kiejung PARK ; Dohoon LEE ; Cheol Min KIM
Genomics & Informatics 2009;7(3):178-180
A few bioinformatics tools have been used to find out conserved regions as probes. We have developed a system based on a heuristic method with web interfaces to find out conserved regions against microbial genomes. The system runs in real time by using relative entropy in limited narrow regions and detecting similar regions between pair regions with local alignment. The system could be useful to find out conserved regions as genome-wide scale.
Computational Biology
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Entropy
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Genome
2.A comparative study of Watson for Oncology and tumor boards in breast cancer treatment
Dohoon KIM ; Yun Young KIM ; Joon Hyop LEE ; Yoo Seung CHUNG ; Sangtae CHOI ; Jin Mo KANG ; Heung Kyu PARK ; Yong Soon CHUN
Korean Journal of Clinical Oncology 2019;15(1):3-6
PURPOSE: Watson for Oncology (WFO) is a computing system for considering treatment option with patients. The aim of this study is to determine the concordance rate of WFO and tumor board in treatment options of breast cancer.METHODS: One hundred and seventy breast cancer patients who were treated at Gachon University Gil Medical Center (GMC) from December 2016 to March 2018 were investigated. “Concordance” is defined that treatment provided by GMC tumor board and WFO-provided treatments (Recommend or For Consideration) were coincide. “Discordance” is defined that treatment provided by GMC tumor board and WFO-provided treatments (Not Recommended or Not Available) were coincide.RESULTS: In chemotherapy, of the total 170 patients, 23 patients were excluded, and the concordance rate was compared in 147 patients. Concordance rate was 93% (136/147). In the 11 patients who were discordant, seven patients complied with the treatment proposed by GMC tumor board due to insurance problems and age, and two patients did not follow the treatment proposed by WFO due to pregnancy and patient's choice, and one patient chose a treatment determined by WFO, last one patient was not treated with chemotherapy because it was not considered to be clinically necessary. In radiotherapy, the overall agreement rate was as high as 99% (147/148).CONCLUSION: Through this study, we found that many of the treatment proposals provided by WFO are highly reliable. Although the overall agreement is high in the radiotherapy regimen, the indication for radiotherapy by WFO is more aggressive and hypofractionated high dose intensity radiotherapy is growing trend by WFO.
Breast Neoplasms
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Breast
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Drug Therapy
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Humans
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Insurance
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Pregnancy
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Radiotherapy
3.Clinical and Genetic Characteristics of Korean Patients Diagnosed with Chronic Enteropathy Associated with SLCO2A1 Gene: A KASID Multicenter Study
Hee Seung HONG ; Jiwon BAEK ; Jae Chul PARK ; Ho-Su LEE ; Dohoon PARK ; A-Ran YOON ; Soo Jung PARK ; Sung Noh HONG ; Seong-Joon KOH ; Chang Kyun LEE ; Bo-In LEE ; Sung Wook HWANG ; Sang Hyoung PARK ; Seung-Jae MYUNG ; Suk-Kyun YANG ; Kyuyoung SONG ; Byong Duk YE ; On behalf of the IBD Research Group of the Korean Association for the Study of Intestinal Diseases
Gut and Liver 2022;16(6):942-951
Background/Aims:
Chronic enteropathy associated with SLCO2A1 gene (CEAS), an inherited disease characterized by nonspecific intestinal ulcers, has emerged in the Japanese population via loss-of-function mutations in the SLCO2A1 gene. We aimed to investigate the clinical and genetic characteristics of Korean patients diagnosed with CEAS.
Methods:
From July 2018 to July 2021, we performed Sanger sequencing of the SLCO2A1 gene in 46 patients with chronic intestinal ulcers. CEAS was confirmed based on known SLCO2A1 mutations. We summarized the clinical characteristics of patients with confirmed CEAS.
Results:
Fourteen out of 46 patients (30.4%) had genetically confirmed CEAS, and two SLCO2A1variants were detected (splicing site variant c.940+1G>A and nonsense mutation [p.R603X] in SLCO2A1). Twelve patients (85.7%) were females and the median age at diagnosis of CEAS was 44.5 years. All patients presented with abdominal pain, and 13 patients (92.9%) presented with anemia (median hemoglobin, 9.6 g/dL). Ten patients (71.4%) had hypoalbuminemia (median, 2.7 g/dL). The most commonly involved site was the ileum (13/14, 92.9%). Manifestations of primary hypertrophic osteoarthropathy (PHO), such as digital clubbing, pachydermia, and periostosis were observed in five patients (28.6%) and two male patients and one female patient satisfied all major PHO diagnostic criteria.
Conclusions
The clinical and genetic characteristics of Korean patients with confirmed CEAS were similar to those reported in the literature. CEAS should be considered in the differential diagnosis for patients with unexplained chronic nonspecific ulcers of the small intestine.