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SUBMITTED

Matthew E. Lee, Matei Ionita, Jaesik Kim, Jonghyun Lee, Yidi Huang, Yonghyun Nam, Michelle McKeague, Irene Khavin, Victoria Fang, Sokratis Apostolidis, Divij Mathew, Shwetank, Ajinkya Pattekar, Zahabia Rangwala, Benjamin Fensterheim, Amit Bar-Or, Benjamin Abramoff, Rennie Rhee, Damian Maseda, Allie Greenplate*, E. John Wherry*, Dokyoon Kim*. MAESTRO: Masked encoding set transformer with self-distillation. ICLR 2025 (Submitted)

Jakob Woerner, Yonghyun Nam, Sang-Hyuk Jung, Manu Shivakumar, Matthew Lee, Eun Kyung Choe, Min Jung Kim, Rumi Shin, Seung-Bum Ryoo, Seung-Yong Jeong, Kyu Joo Park, Sung Chan Park, Dae Kyung Sohn, Jae Hwan Oh, Dokyoon Kim*, Ji Won Park*. Leveraging automated machine learning to predict colon cancer prognosis from clinical features and risk groupseClinicalMedicine (Submitted)

Chang-Uk Jeong, Jaesik Kim, Kyung-Hwan Jeong, So-Young Lee, Dong-Young Lee, Gang Jee Ko, Min-Jeong Lee, Seok Hui Kang, Yanggyun Kim*, Dokyoon Kim*. Dynamic LLM-Driven Insights: A Novel Approach to Unconstrained KDQOL Analysis in Dialysis CareAMIA 2025 Informatics Summit (Submitted)

Jacob S. Leiby, Dokyoon Kim*,Eun Kyung Choe*. Development of an AI-Driven Biological Age Prediction Model Using Comprehensive Health Check-Up DataJMIR aging (Submitted)

Young Mi Jung, So Yeon Kim, Jeesun Lee, Dokyoon Kim, Manu Shivakumar, Chan-Wook Park, Joong Shin Park, Jong Kwan Jun, Seung Mi Lee*. Stillbirth: a risk for long-term cardiovascular outcomesAmerican Journal of Obstetrics & Gynecology  (Submitted)

Young Eun Huh§, Beomjin Jang§, Sang-Hyuk Jung§, Dokyoon Kim, Towfique Raj* and Hong-Hee Won* . Protective effects of genetic proxies of cognitive reserve on progression of Parkinson’s diseaseBrain  (Submitted)

Eunjae Park§, Kisung Nam§, Seokho Jeong§, Karl Keat, Dokyoon Kim, Vikas Bansal, Wei Zhou*, Seunggeun Lee*. Meta-SAIGE: Scalable and accurate meta-analysis for rare variantsNature Genetics (Submitted)

Sarah A. Abramowitz, Kristin Boulier, Karl Keat, Katherine Cardone, Manu Shivakumar, John DePaolo, Renae Judy, Dokyoon Kim, Marylyn Ritchie, Benjamin F. Voight, Bogdan Pasaniuc, Michael G. Levin* Scott M. Damrauer*. Evaluating Performance and Agreement of Coronary Artery Disease Polygenic Risk ScoresJAMA (Submitted)

Matthew E. Lee, Victoria Fang, Rishi Raghav Suresh, Lina Takemaru, Angela Ge, Derek Oldridge*, Dokyoon Kim*, E. John Wherry*. On the utility of representation learning in whole slide imaging for autoinflammatory skin diseaseECCV 2024  (Submitted)

Sunghong Park, Doyoon Kim, Heirim Lee, Chang Hyung Hong, Sang Joon Son, Hyun Woong Roh, Dokyoon Kim, Yonghyun Nam, Dong-gi Lee, Hyunjung Shin*. Plasma protein-based identification of imaging-driven subtypes in mild cognitive impairment via protein-protein interaction aware explainable graph propagational networkComputers in Biology and Medicine  (Submitted)

Brenda Xiao, Mary Regina Boland, Latrice Landry, Chelsea Okeh, Tess Cherlin, Shefali Setia Verma, Anurag Verma, Colleen Morse, Penn Medicine Biobank, Dokyoon Kim*, Marylyn D. Ritchie*. Phenome-wide associations with socioeconomic vulnerability indices reveal similarities and differences among diverse groups in the Penn Medicine BiobankNature Communications  (Submitted)

Jun Pyo Kim§, Sang-Hyuk Jung§, Beomjin Jang, Minyoung Cho, Jaeyoung Kim, Beomsu Kim, Hyunwoo Lee, Daeun Shin, Eun Hye Lee, Hyemin Jang, Bohyun Kim, Hong-Gi Ham, Dokyoon Kim, Towfique Raj, Carlos Cruchaga, Hee Jin Kim, Duk L. Na, Sang Won Seo*, Hong-Hee Won*. Cross-ancestry genome-wide association study identifies implications of SORL1 in 2  cerebral beta-amyloid depositionNature Communications  (Submitted)

Jae-Seung Yun, Sang-Hyuk Jung, Seung Min Jung, Hong-Hee Won, Dokyoon Kim, Jin A Choi*. Corneal Hysteresis as a Key Determinant in Glaucoma Development among Patients with Myopia: A prospective study based on the UK BiobankOphthalmology (Submitted)

Jonghyun Lee, Dokyoon Kim, Dae Won Jun, Yun Kim*. MMF-DTI: Multi-Modal Fusion-based Efficient Model for Enhanced Generalization in Drug-Target Interaction PredictionJournal of Cheminformatics (Submitted)

Jaesik Kim, Byounghan Lee, Jonghyun Lee, Jacob S. Leiby, Kyu Yeoun Won, Kyung-Ah Sohn, Young Chan Lee*, Dokyoon Kim*. GPT-4 Enhances Oncology Decision Support by Automating Key Information Extraction and  Prognosisnpj Precision Oncology (Submitted)

Jakob Woerner, Yang Gyun Kim, Sang-Hyuk Jung, Manu Shivakumar, Brenda Xiao, Jae-Seung Yun, Yonghyun Nam*,  Dokyoon Kim*. Network-guided personalized disease complication prediction by incorporating biobank-scaled genetic and clinical dataECCB 2024 (Submitted)

Yonghyun Nam, Sang-Hyuk Jung, Jakob Woerner, Patrick J. Lawrence, Dong-gi Lee, Shu Yang, Tianhua Zhai, Hyunjung Shin, Xia Ning, Li Shen, and Dokyoon Kim*. Context-specific drug scoring for precision re-purposing via synergizing label propagation with heterogeneous networksBriefings in Bioinformatics (Submitted)

Chang-Uk Jeong, Jaesik Kim, Dokyoon Kim*, Kyung-Ah Sohn*. GeOKG: Geometry-aware knowledge graph embedding for Gene Ontology and genesBioinformatics (Submitted)

Seung Min Jung, Sang-Hyuk Jung, Su-Nam Lee, Jin A Choi, Dokyoon Kim, Hong-Hee Won, Ki-Jo Kim, Jae-Seung Yun*. Hyperuricemia and Valvular Heart Disease: Exploring the Association and the Role of Weight ManagementEuropean Heart Journal (Submitted)

Sang‑Hyuk Jung§, Haemin Kim§, Young Mi Jung, Manu Shivakumar, Brenda Xiao, Jaeyoung Kim, Beomjin Jang, Jae-Seung Yun, Hong-Hee Won, Chan-Wook Park, Joong Shin Park, Jong Kwan Jun, Penn Medicine Biobank, Dokyoon Kim*, Seung Mi Lee*. Long-term cardiovascular risk according to lifestyle, and metabolic health, and genetic risk for hypertensive disease during pregnancyNature Communications (Submitted)

Sang-Hyuk Jung§, Young Mi Jung§, Eun-Saem Choi, Jeesun Lee, Minku Song, Jaeyoung Kim, Chan-Wook Park, Joong Shin Park, Jong Kwan Jun, Ida Surakka, Gina M. Peloso, Ron Do, Pradeep Natarajan, Dokyoon Kim, Seung Mi Lee*, Hong-Hee Won*. An atlas of genetic associations between blood and urine biomarkers and risk of adverse pregnancy outcomesEuropean Heart Journal  (Submitted)

Vivek Sriram, Jakob Woerner, Yong-Yeol Ahn*, Dokyoon Kim*. The Interplay of Sex and Genotype in Disease Associations: A Comprehensive Network Analysis in the UK Biobank. Bioinformatics  (Submitted)

Yuki Gen, Kyuho Kim, Joonyub Lee, Junyoung Jung, Sang-Hyuk Jung, Hong-Hee Won, Dokyoon Kim, Yun-sung Jo, Yu-Bae Ahn, Seung-Hyun Ko, Jae-Seung Yun*. The Impact of Obesity on the Association Between Parity and Risk of Type 2 Diabetes. Journal of Internal Medicine  (Submitted)

Seokho Jeong§, Manu Shivakumar§, Sanghyuk Jung, Hong-Hee Won, Kwangsik Nho, Heng Huang, Christos Davatzikos, Andrew J Saykin, Paul M. Thompson, Li Shen, Young Jin KimBong-Jo Kim, Seunggeun Lee*, Dokyoon Kim*. Addressing overfitting bias due to sample overlap in polygenic risk scoring. Alzheimer's and Dementia  (Submitted)

Soojin Cha, Injeong Shim, Sang-Hyuk Jung, Beomsu Kim, Soyeon Kim, Mi-So Park, Hyunbin Cho, Yonghyun Nam, Woong-Yang Park, Dokyoon Kim*, Hong-Hee Won*. Genetic contributions of germline variants associated with cancer driver gene expression and 33 immune responses to 16 cancers using UK Biobank data. Communications Medicine (Submitted)

Vivek Sriram, Ashley Mae Conard, Ilyana Rosenberg, Dokyoon Kim and Amanda K Hall* . Accelerating precision medicine: a proposed framework for large-scale multiomic data integrity, interoperability, analysis, and collaboration in biomedical discovery. Scientific Reports  (Submitted)

Eun-Saem Choi­§, Sang-Hyuk Jung­§, Young Mi Jung, Chan-Wook Park, Joong Shin Park, Jong Kwan Jun, Jaeyoung Kim, Beomsu Kim, Chamlee Cho, Injeong Shim, Dokyoon Kim, Hong-Hee Won*, Seung Mi Lee*. Polygenic risk score for preeclampsia and the long-term risk of incident hypertension and cardiovascular disease: a population-based cohort study in South Korea. American Journal of Obstetrics and Gynecology  (Submitted)

Jingxuan Bao, Junhao Wen, Changgee Chang, Zixuan Wen, Jiong Chen, Yuhan Cui, Guray Erus, Zhijian Yang, Shizhuo Mu, Shu Yang, Manu Shivakumar, Dokyoon Kim, Andrew J. Saykin, Christos Davatzikos, Qi Long*, Li Shen*, and for the Alzheimer’s Disease Neuroimaging Initiative. GIANT: Genetically informed brain atlas for enhancing imaging genomics. Nature Neuroscience  (Submitted)

Jae-Seung Yun§, Garam Lee§, Jaesik Kim, Seung-Hyun Ko, Yu-Bae Ahn,  Kyung-Ah Sohn*, Dokyoon Kim*. Artificial intelligence and individualized optimal glycemic target in ICU patients. eClinicalMedicine  (Submitted)

Yonghyun Nam§, Vivek Sriram§, Manu Shivakumar, Anurag Verma, Jae-Seung Yun, Dokyoon Kim*. An enhanced disease network with robust cross-phenotype relationships via variant frequency-inverse phenotype frequency. Nature Communications  (Submitted)

2024

Jaesik Kim§, Matei Ionita§, Matthew Lee, Michelle L. McKeague, Ajinkya Pattekar, Mark M. Painter, Joost Wagenaar, Van Truong, Dylan T. Norton, Divij Mathew, Yonghyun Nam, Sokratis A. Apostolidis, Cynthia Clendenin, Patryk Orzechowski, Sang-Hyuk Jung, Jakob Woerner, Caroline A.G. Ittner, Alexandra P. Turner, Mika Esperanza, Thomas G. Dunn, Nilam S. Mangalmurti, John P. Reilly, Nuala J. Meyer, Carolyn S. Calfee, Kathleen D. Liu, Michael A. Matthy, Lamorna Brown Swigart, Ellen L. Burnham, Jeffrey McKeehan, Sheetal Gandotra, Derek W. Russel, Kevin W. Gibbs, Karl W. Thomas, Harsh Barot, Allison R. Greenplate* E. John Wherry*, Dokyoon Kim*. Cytometry Masked Autoencoder: An Accurate and Interpretable Automated Immunophenotyper. Cell Reports Medicine (Accepted)

Sunghong Park§, Dong-gi Lee§, Juhyeon Kim§, Doyoon Kim, Chang Hyung Hong, Sang Joon Son, Hyun Woong Roh, Dokyoon Kim, Hyunjung Shin*, and Hyun Goo Woo*. NetPRS: SNP interaction aware network-based polygenic risk score for Alzheimer’s diseaseIEEE BHI 2024 (Accepted)

Jakob Woerner§, Thomas Westbrook§, Seokho Jeong, Manu Shivakumar, Allison R. Greenplate, Sokratis A. Apostolidis, Seunggeun Lee, Yonghyun Nam*, Dokyoon Kim*. Plasma protein-based and polygenic risk scores serve complementary roles in predicting inflammatory bowel diseasePacific Symposium on Biocomputing (PSB) 2025  (Accepted)

Karl Keat§, Rasika Venkatesh§, Yidi Huang§, Rachit Kumar, Sony Tuteja, Katrin Sangkuhl, Binglan Li, Li Gong, Michelle Whirl-Carrillo, Teri E. Klein, Marylyn D. Ritchie*, Dokyoon Kim*. PGxQA: A Resource for Evaluating LLM Performance for Pharmacogenomic QA TasksPacific Symposium on Biocomputing (PSB) 2025  (Accepted)

Manu Shivakumar§, Yanggyun Kim§, Sang-Hyuk Jung, Jakob Woerner, Dokyoon Kim*. Salt intake is a stronger predictor of chronic kidney disease in genetically susceptible populationPacific Symposium on Biocomputing (PSB) 2025  (Accepted)

Tomas Gonzalez Zarzar*, Nicole E. Palmiero, Dokyoon Kim, Li Shen, Molly A. Hall. Differential Effects of Environmental Exposures on Clinically Relevant Endophenotypes Between SexesScientific Reports  (Accepted)

Ki Won Moon§, Sang‑Hyuk Jung§, Hyun Sue Do, Chang-Nam Son, Jaeyoung Kim, Yonghyun Nam, Jae-Seung Yun, Woong-Yang Park, Hong-Hee Won, Dokyoon Kim*. Cardiovascular risk according to genetic predisposition to gout, lifestyle, and metabolic health across prospective European and Korean cohortsRheumatic & Musculoskeletal Diseases Open (Accepted)

Seung Min Jung, Sang-Hyuk Jung, Su-Nam Lee, Jin A Choi, Dokyoon Kim, Hong-Hee Won, Ki-Jo Kim, Jae-Seung Yun*. he Impact of Lifestyle on Cardiovascular Risk in Patients with Gout: a Population-based Cohort Study. European Heart Journal - Quality of Care and Clinical Outcomes  (Accepted)

Doyun Kwon, Young Mi Jung, Hyung-Chul Lee, Tae Kyong Kim, Kwangsoo Kim, Garam Lee, Dokyoon Kim, Seung-Bo Lee, Seung Mi Lee*. Non-invasive prediction of massive transfusion during surgery using intraoperative hemodynamic monitoring data. Journal of Biomedical Informatics  (Accepted)

Yeongmin Kim§, Wongyung Choi§, Woojeong Choi, Grace Ko, Hwan-Cheol Kim, Dong Wook Shin, Dokyoon Kim, Dong-gi Lee, and Younghee Lee*. A machine learning approach using conditional normalizing flow to address extreme class imbalance problems in personal health records. BioData Mining  (Accepted)

Jeong-Hyeon Moon, Garam Lee, Seung Mi Lee, Jiho Ryu, Dokyoon Kim*, Kyung-Ah Sohn*. Frequency domain deep learning with non-invasive features for intraoperative hypotension prediction. IEEE Journal of Biomedical and Health Informatics  (Accepted)

Jacob S. Leiby, Matthew E. Lee, Manu Shivakumar, Eun Kyung Choe*, Dokyoon Kim*. Deep learning imaging phenotype can classify metabolic syndrome and is predictive of cardiometabolic disordersJournal of Translational Medicine  (Accepted)

Sang-Hyuk Jung§, Young Chan Lee§, Manu Shivakumar, Jaeyoung Kim, Jae-Seung Yun, Hong-Hee Won, Regeneron Genetics Center, Penn Medicine Biobank, Dokyoon Kim*. Association between genetic risk and adherence to healthy lifestyle for developing age-related hearing loss. BMC Medicine  (Accepted)

Jae-Seung Yun§, Sang-Hyuk Jung§, Su-Nam Lee, Seung Min Jung, Hong-Hee Won*, Dokyoon Kim*, Jin A Choi*. Polygenic Risk Score-based Phenome-wide Association for Glaucoma and Its Impact on Disease Susceptibility in Two Large Biobanks. Journal of Translational Medicine (Accepted)

Jakob Woerner§, Vivek Sriram§, Yonghyun Nam, Anurag Verma, and Dokyoon Kim*. Uncovering genetic associations in the human diseasome using an endophenotype-augmented Disease Network. Bioinformatics  (Accepted)

Yonghyun Nam, Jaesik Kim, Sang-Hyuk Jung, Jakob Woerner, Erica H. Suh, Dong-gi Lee, Manu Shivakumar, Matthew E. Lee, Dokyoon Kim*. Harnessing AI in Multi-Modal Omics Data Integration: Paving the Path for the Next Frontier in Precision MedicineAnnual Review of Biomedical Data Science (Accepted)

Young Chan Lee§, Sang-Hyuk Jung§, Manu Shivakumar, Soojin Cha, Woong-Yang Park, Hong-Hee Won, Young-Gyu Eun, Penn Medicine Biobank, Dokyoon Kim*. Polygenic risk score-based phenome-wide association study of head and neck cancer across two large biobanksBMC Medicine (Accepted)

Shizhuo Mu, Jingxuan Bao, Hanxiang Xu,Manu Shivakumar, Shu Yang, Xia Ning, Dokyoon Kim, Christos Davatzikos, Haochang Shou, Li Shen, for the ADNI. Multivariate mediation analysis with voxel-based morphometry revealed the neurodegeneration pathways from genetic variants to Alzheimer’s DiseaseAMIA 2024 Informatics Summit  (Accepted)

Brian Lee, Junwen Wang, Molly A. Hall,  Dokyoon Kim, Shana D. Stites, Li Shen*. Sex modifies predictive effects of imaging and CSF biomarkers on cognitive and functional outcomes: A study of Alzheimer’s disease. Neurobiology of Aging, 133:67-77, 2024 [PubMed]

Shunian Xiangy§, Patrick J. Lawrencey§, Bo Peng, ChienWei Chiang, Dokyoon Kim, Li Shen, Xia Ning*. Modeling Path Importance for E ective Alzheimer's Disease Drug Repurposing. Pacific Symposium on Biocomputing (PSB), 29:306-321, 2024 [PubMed]

2023

Young Chan Lee, Yonghyun Nam, MinJeong Kim, Su Il Kim, Jung-Woo Lee, Young-Gyu Eun*, Dokyoon Kim*. Prognostic significance of senescence-related tumor microenvironment genes in head and neck squamous cell carcinomaAging, 16(2):985-1001, 2023 [PubMed]

Matthew E. Lee, Victoria Fang, Rami Vanguri, Abigail Zellmer, Amy Baxter, Dokyoon Kim*, Derek Oldridge*, E. John Wherry*. A multi-modal image pipeline for automated generation of large, labeled H&E image data-sets. Medical Imaging Meets NeurIPS, Workshop at NeurIPS 2023  (Accepted)

Jaesik Kim§, Matei Ionita§, Matthew Lee, Michelle McKeague, Ajinkya Pattekar, Mark Painter, Joost Wagenaar, Van Truong, Dylan Norton, Divij Mathew, Yonghyun Nam, Sokratis Apostolidis, Patryk Orzechowski, Sang-Hyuk Jung, Jakob Woerner, Nuala J. Meyer, Allison R. Greenplate* Dokyoon Kim*, E. John Wherry*. Single-cell Masked Autoencoder: An accurate and interpretable automated immunophenotyper. AI for Science, Workshop at NeurIPS 2023  (Accepted)

Van Q. Truong, Matthew E. Lee, Dokyoon Kim, E. John Wherry*, Marylyn D. Ritchie*. Immunology Meets Artificial Intelligence: Expanding Our Scientific Toolbox. AI for Science, Workshop at NeurIPS 2023  (Accepted)

Erica H. Suh­§, Garam Lee§, Sang-Hyuk Jung, Zixuan Wen, Jingxuan Bao, Kwangsik Nho, Heng Huang, Christos Davatzikos, Andrew J. Saykin, Paul M. Thompson, Li Shen, Dokyoon Kim*, for the ADNI. An interpretable Alzheimer’s disease oligogenic risk score informed by neuroimaging biomarkers improves risk prediction and stratification. Frontiers in Aging Neuroscience, 15:1281748, 2023 [PubMed]

Ji Hye Bae, Young Mi Jung, Jeesun Lee, Manu Shivakumar, Chan-Wook Park, Joong Shin Park, Jong Kwan Jun, Dokyoon Kim, Seul Ki Kim, Seung Mi Lee. Future risk of metabolic syndrome after recurrent pregnancy loss : A cohort study using UK Biobank. Fertility and Sterility, 120(6):1227-1233, 2023 [PubMed]

Jacob S. Leiby, Matthew E. Lee, Eun Kyung Choe*, Dokyoon Kim*. Data-driven Classification of Fatty Liver From 3D Unenhanced Abdominal CT Scans. Machine Learning in Medical Imaging (MLMI) 2023, 264-272, 2023 [PubMed]

Su Nam Lee§, Jae-Seung Yun§, Seung-Hyun Ko, Yu-Bae Ahn, Ki-Dong Yoo, Sung-Ho Her, Donggyu Moon, Sang-Hyuk Jung, Hong-Hee Won, Dokyoon Kim. Impacts of gender and lifestyle on the association between depressive symptoms and cardiovascular disease risk in the UK Biobank. Scientific Reports, 13(1):10758, 2023 [PubMed]

Yonghyun Nam, Anastasia Lucas, Jae-Seung Yun, Seung Mi Lee, Ji Won Park, Ziqi Chen, Brian Lee, Xia Ning, Li Shen, Anurag Verma*,  Dokyoon Kim*. Development of complemented comprehensive networks for rapid screening of repurposable drugs applicable to new emerging disease outbreaks. Journal of Translational Medicine, 21(1):415, 2023[PubMed]

Seung Mi Lee§, Manu Shivakumar§, Brenda Xiao, Sang-Hyuk Jung, Yonghyun Nam, Jae-Seung Yun, Eun Kyung Choe, Soo Heon Kwak, Kwangsoo Kim, Young Mi Jung, Sohee Oh, Chan-Wook Park, Joong Shin Park, Jong Kwan Jun, Dokyoon Kim*. Genome-wide polygenic risk scores for hypertensive disease during pregnancy can also predict the risk for long-term cardiovascular disease. American Journal of Obstetrics & Gynecology, S0002-9378(23)00157-6, 2023 [PubMed]

Yonghyun Nam§, Sang-Hyuk Jung§, Jae-Seung Yun, Anurag Verma, Vivek Sriram, Hyunjung Shin, Hong-Hee Won*, Dokyoon Kim*. Discovering comorbid diseases based on the inter-disease directional network using biobank-scale PheWAS data. Bioinformatics, 39(1):btac822, 2023  [PubMed

Pankhuri Singhal, Lindsay Guare, Colleen Morse, Marta Byrska- Bishop, Marie A. Guerraty, Dokyoon Kim, Marylyn D. Ritchie*, Anurag Verma*. DETECT: Feature extraction method for disease trajectory modeling. AMIA 2023 Informatics Summit, 2023:487-496, 2023 [PubMed]

Brenda Xiao, Digna Velez Edwards, Anastasia Lucas, Theodore Drivas, Kathryn Gray, Brendan Keating, Chunhua Weng, Gail Jarvik, Hakon Hakonarson, Leah Kottyan, Noemie Elhadad, Wei-Qi Wei, Yuan Luo, Dokyoon Kim, Marylyn Ritchie, and Shefali Verma*. Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female-Specific Health Conditions. Journal of the American Heart Association, 12(5):e026561, 2023 [PubMed

Daniel Hui*, Brenda Xiao*, Ozan Dikilitas, Robert R. Freimuth, Marguerite R. Irvin, Gail P. Jarvik, Leah Kottyan, Iftikhar Kullo, Nita A. Limdi, Cong Liu, Yuan Luo, Bahram Namjou, Megan J. Puckelwartz, Daniel Schaid, Hemant Tiwari, Wei-Qi Wei, Shefali Verma, Dokyoon Kim, Marylyn D. Ritchie*. Quantifying factors that affect polygenic risk score performance across diverse ancestries and age groups for body mass index.

PSB 2023, 28:437-448, 2023 [PubMed]

2022

Seung Mi Lee§, Garam Lee§, Taekyoung Kim, Trang Le, Jie Hao, Young Mi Jung, Chan-Wook Park, Jong Kwan Jun, Joong Shin Park, Hyung-Chul Lee*, Dokyoon Kim*. Development and validation of a prediction model for need for massive transfusion during surgery using intraoperative hemodynamic monitoring data. JAMA Network Open, 5(12):e2246637, 2022  [PubMed]

Daniele Pala, Brian Lee, Xia Ning, Dokyoon Kim, Li Shen*. Mediation Analysis and Mixed-Effects Models for the Identification of Stage-specific Imaging Genetics Patterns in Alzheimer’s Disease. IEEE BIBM 2022, 10.1109/BIBM55620.2022.9995405, 2022 [PubMed]

Seung Mi Lee, Manu Shivakumar, Ji Won Park, Young Mi Jung, Eun Kyung Choe, Soo Heon Kwak, Sohee Oh, Chan-Wook Park, Joong Shin Park, Jong Kwan Jun, Dokyoon Kim*, Jae-Seung Yun*. Long-term cardiovascular outcomes of gestational diabetes mellitus: A prospective population-based UK biobank study. Cardiovascular Diabetology, 21(1):221, 2022 [PubMed

Ji-Won Huh, Min Jung Kim, Jaesik Kim, Hyeon Gwon Lee, Seung-Bum Ryoo, Ja-Lok Ku, Seung-Yong Jeong, Kyu Joo Park, Dokyoon Kim, Jihyun F. Kim* and Ji Won Park*. Enterotypical Prevotella and pathobionts in the gut microbiota as prognostic biomarkers for colorectal cancer. Microbiome, 10(1):203, 2022  [PubMed]

Hung Mai, Jingxuan Bao, Paul M. Thompson, Dokyoon Kim, Li Shen. Identifying genes associated with brain volumetric changes through tissue specific transcriptomic inference from GWAS summary data. BMC Bioinformatics, 23(Suppl 3):398, 2022 [PubMed

Jae-Seung Yun§, Sang-Hyuk Jung§, Manu Shivakumar, Brenda Xiao, Amit V. Khera, Hong-Hee Won*, Dokyoon Kim*. Associations between polygenic risk of coronary artery disease and type 2 diabetes, lifestyle, and cardiovascular mortality: a prospective UK Biobank study. Frontiers in Cardiovascular Medicine, 9:919374, 2022 [PubMed

Seung Mi Lee§, Yonghyun Nam§, Eun Saem Choi, Young Mi Jung, Vivek Sriram, Jacob Leiby, Ja Nam Koo, Ig Hwan Oh, Byoung Jae Kim, Sun Min Kim, Sang Youn Kim, Gyoung Min Kim, Sae Kyung Joo, Sue Shin, Errol R. Norwitz, Chan-Wook Park, Jong Kwan Jun, Won Kim, Dokyoon Kim*, Joong Shin Park*. Development of early prediction model for pregnancy-associated hypertension with graph-based semi-supervised learning. Scientific Reports, 12(1):15793, 2022 [PubMed

Jae-Seung Yun§, Sang-Hyuk Jung§, Manu Shivakumar, Brenda Xiao, Amit V. Khera, Hong-Hee Won*, Dokyoon Kim*. Polygenic risk for type 2 diabetes, lifestyle, metabolic health, and cardiovascular disease: a prospective UK Biobank study. Cardiovascular Diabetology, 21(1):131, 2022 [PubMed

Eun Kyung Choe§, Manu Shivakumar§, Seung Mi Lee, Anurag Verma*, Dokyoon Kim*. Dissecting the clinical relevance of polygenic risk score for obesity in the Korean population - cross sectional, longitudinal analysis. International Journal of Obesity, 10.1038/s41366-022-01168-2, 2022 [PubMed

Sang-Hyuk Jung,  Dokyoon Kim*, Ji Won Park*. [Correspondence] Development and validation of a novel strong prognostic index for colon cancer through a robust combination of laboratory features for systemic inflammation: A prognostic immune nutritional index. British Journal of Cancer, 127(1):170-171, 2022 [PubMed

Jacob S. Leiby, Jie Hao, Gyeong Hoon Kang, Ji Won Park*, Dokyoon Kim*. Attention-based multiple instance learning with self-supervision to predict microsatellite instability in colorectal cancer from histology whole-slide images. IEEE EMBC 2022, 10.1109/EMBC48229.2022.9871553, 2022 [PubMed]

Sang-Hyuk Jung§, Jie Hao§, Manu Shivakumar, Yonghyun Nam, Jaesik Kim, Min Jung Kim, Seung-Bum Ryoo, Eun Kyung Cho, Seung-Yong Jeong, Kyu Joo Park, Sung Chan Park, Dae Kyung Sohn, Jae Hwan Oh, Hong-Hee Won, Dokyoon Kim*, Ji Won Park*. Development and validation of a novel strong prognostic index for colon cancer through a robust combination of laboratory features for systemic inflammation: A prognostic immune nutritional index. British Journal of Cancer, 126(11):1539-1547, 2022 [PubMed

Tomas Gonzalez Zarzar, Brian Lee, Rory Coughlin, Dokyoon Kim, Li Shen, and Molly A. Hall*. Sex differences in the metabolize of Alzheimer's disease progression. Frontiers in Radiology,  10.3389/fradi.2022.782864, 2022 [PubMed]

Jae-Seung Yun§, Jaesik Kim§, Sang-Hyuk Jung, Sean-Ah Cha, Seung-Hyun Ko, You-Bae Ahn, Hong-Hee Won, Kyung-Ah Sohn*, Dokyoon Kim*. A Deep Learning Model for Screening Type 2 Diabetes from Retinal Photographs. Nutrition, Metabolism and Cardiovascular Diseases, S0939-4753(22)00027-8, 2022 [PubMed

Vivek Sriram§, Manu Shivakumar§, Sang-Hyuk Jung, Yonghyun Nam, Lisa Bang, Anurag Verma, Seunggeun Lee, Eun Kyung Choe, Dokyoon Kim*. NETMAGE: a human-disease phenotype map for the visualization of PheWAS. GigaScience, 11:giac002, 2022 [PubMed

Eun Kyung Choe§, Manu Shivakumar§, Anurag Verma, Shefali Verma, Seung Ho Choi, Joo Sung Kim, Dokyoon Kim*. Leveraging deep phenotyping from health check-up cohort with 10,000 Korean individuals for phenome-wide association study of 136 traits. Scientific Reports, 12(1):1930, 2022 [PubMed]

2021

Vivek Sriram§, Yonghyun Nam§, Manu Shivakumar, Sang-Hyuk Jung, Anurag Verma, Seung Mi Lee*, Dokyoon Kim*. A network-based analysis of disease complication association for obstetric disorders in the UK Biobank. Journal of Personalized Medicine, 11(12):1382, 2021 [PubMed

Jaesik Kim, Kyung-Ah Sohn, Sang-Hyuk Jung, Jung-Hak Kwak, Min Jung Kim, Seung-Bum Ryoo, Seung-Yong Jeong, Kyu Joo Park, Hyun-Cheol Kang, Eui Kyu Chie, Dokyoon Kim*, Ji Won Park*. A novel scoring system for response of preoperative chemoradiotherapy in locally advanced rectal cancer using early-treatment blood features derived from machine learning. Frontiers in Oncology, 11:790894, 2021 [PubMed

Mansu Kim§, Jaesik Kim§, Jeffrey Qu, Hong Huang, Kyung-Ah Sohn, Qi Long, Dokyoon Kim, Li Shen*. Interpretable temporal graph neural network for prognostic prediction of Alzheimer’s disease using longitudinal neuroimaging data. IEEE BIBM 2021, 2021:1381-1384, 2021 [PubMed

Yonghyun Nam§, Sang-Hyuk Jung§, Anurag Verma, Vivek Sriram, Hong-Hee Won, Jae-Seung Yun, Dokyoon Kim*. netCRS: Network-based comorbidity risk score for prediction of myocardial infarction using biobank-scaled PheWAS data. Pacific Symposium on Biocomputing (PSB), 27:325-336, 2021 [PubMed]

Jingxuan Bao, Zixuan Wen, Mansu Kim, Xiwen Zhao, Brian N. Lee, Sang-Hyuk Jung, Christos Davatzikos, Andrew J. Saykin, Paul M. Thompson, Dokyoon Kim, Yize Zhao, Li Shen, and for the Alzheimer's disease Neuroimaging Initiative. Identifying highly heritable brain amyloid phenotypes through mining Alzheimer's imaging and sequencing biobank data. Pacific Symposium on Biocomputing (PSB), 27:109-120, 2021 [PubMed

John Holmes, James Beinlich, Mary Boland, Kathryn Bowles, Yong Chen, Tessa Cook, George Demiris, Michael Draugelis, Laura Fluharty, Peter Gabriel, Robert Grundmeier, C. Hanson, Daniel Herman, Blanca Himes, Rebecca Hubbard, Charles Kahn, Jr., Dokyoon Kim, Ross Koppel, Qi Long, Bebojsa Mirkovic, Jeffery Morris, Danielle Mowery, Marylyn Ritchie, Ryan Urbanowicz, Jason Moore. Why is the electronic health record so challenging for research and clinical care? Methods of Information in Medicine, 60(1-02):32-48, 2021 [PubMed]

Manu Shivakumar, Jason E. Miller, Venkata Ramesh Dasari, Yanfei Zhang, Ming Ta Michael Lee, David Carey, Radhika Gogoi*, Dokyoon Kim*. Genetic analysis of functional rare germline variants across 9 cancer types from an electronic health record linked biobank. Cancer Epidemiology, Biomarkers & Prevention, 30(9):1681-1688, 2021 [PubMed]

Lisa Bang, Manu Shivakumar, Tullika Garg*, Dokyoon Kim*. Genetic analysis reveals rare variants in T-cell response gene MR1 associated with poor overall survival after urothelial cancer diagnosis. Cancers, 13(8):1864, 2021 [PubMed]

Jaesik Kim, Dokyoon Kim*, Kyung-Ah Sohn*. HiG2Vec: Hierarchical representations of gene ontology and genes in the Poincare ball. 

Bioinformatics, 37(18):2971-2980, 2021 [PubMed]

Manu Shivakumar§, Seonggyun Han§, Younghee Lee*, Dokyoon Kim*. Epigenetic interplay between methylation and miRNA in bladder cancer: Focus on isoform expression. BMC Genomics, 22(Suppl 3):754, 2021 [PubMed]

So Yeon Kim, Eun Kyung Choe, Manu Shivakumar, Dokyoon Kim*, Kyung-Ah Sohn*. Multi-layered network-based pathway activity inference using directed random walks: application to predicting clinical outcomes in urologic cancer. Bioinformatics, 37(16):2405-2413, 2021 [PubMed]

Eun Kyung Choe§, Sangwoo Lee§, So Yeon Kim, Manu Shivakumar, Kyu Joo Park, Young Jun Chai, Dokyoon Kim*. Prognostic effect of inflammatory genes on stage I-III colorectal cancer - integrative analysis of TCGA data. Cancers, 13(4):751, 2021 [PubMed]

2020

Dokyoon Kim, Ju Han Kim, Jason H. Moore. Translational bioinformatics: Integrating electronic health record and omics data. Pacific Symposium on Biocomputing (PSB), 26:356-359, 2021 [PubMed]

Brett Beaulieu-Jones, Christian Darabos, Dokyoon Kim, Anurag Verma, Shilpa Nadimpalli Kobren. Innovative methodological approaches for data integration to derive patterns across diverse, large-scale biomedical datasets. Pacific Symposium on Biocomputing (PSB), 26:256-260, 2021 [PubMed]

Yoon-Seong Jeon, Chang-Sung Kim, Manu Shivakumar, Dokyoon Kim, Jung-Seok Lee. Reliability of microarray analysis for studying periodontitis: low consistency in two periodontitis cohort data sets from different platforms and an integrative meta-analysis. Journal of Periodontal & Implant Science, 50(6):e40, 2020 [PubMed]

Sangwoo Lee§, Eun Kyung Choe§, So Yeon Kim, Hua Sun Kim, Kyu Joo Park*, Dokyoon Kim*. Liver imaging features by convolutional neural network to predict the metachronous liver metastasis in stage I-III colorectal cancer patients based on preoperative abdominal CT scan. BMC Bioinformatics, 21(Suppler 13):382, 2020 [PubMed]

Jason H. Moore, Ian Barnett, Mary Regina Boland, Yong Chen, George Demiris, Graciela Gonzalez-Hernandez, Daniel S. Herman, Blanca E. Times, Rebecca A. Hubbard, Dokyoon Kim, Jeffrey S. Morris, Danielle L. Mowery, Marylyn D. Ritchie, Li Shen, Ryan Urbanowicz and John H. Holmes. Ideas for how informaticians can get involved with COVID-19 research. BioData Mining, 13:3, 2020 [PubMed]

Joseph Glessner, Jin Li, Akash Kini, Melody Rynerson, Dokyoon Kim, Anastasia Lucas, Benjamin Chang, John Connolly, Marne Castillo, John Harley, Gail Jarvik, Marylyn D Ritchie, Patrick Sleiman, David Crosslin, Hakon Hakonarson. CNV association of diverse clinical phenotypes from eMERGE reveals novel disease biology underlying cardiovascular disease. International Journal of Cardiology, doi: 10.1016/j.ijcard.2019.07.058, 2020 [PubMed

Shilpa Nadimpalli Kobren, Brett Beaulieu-Jones, Christian Darabos, Dokyoon Kim, Anurag Verma. Ongoing challenges and innovative approaches for recognizing patterns across large-scale, integrative biomedical datasets. Pacific Symposium on Biocomputing (PSB), 25:286-294, 2020 [PubMed]

2019

Jong Jin Oh§, Manu Shivakumar§, Jason E Miller, Shefali Verma, Hakmin Lee, Sung Kyu Hong, Sang Eun Lee, Soo Ji Lee, Joohon Sung, 

Dokyoon Kim*, Seok-Soo Byun*. An exome-wide rare variant analysis of Korean men identifies three novel genes predisposing to prostate cancer. Scientific Reports, 9(1):17173, 2019 [PubMed

Manu Shivakumar, Jason E. Miller, Venkata Ramesh Dasari, Radhika Gogoi*, Dokyoon Kim*, on behalf of the DiscovEHR collaboration. Exome-wide rare variant analysis from the DiscovEHR study identifies novel candidate predisposition genes for endometrial cancer. Frontiers in Oncology, doi: 10.3389/fonc.2019.00574, 2019 [PubMed

Garam Lee, Byungkon Kang, Kwangsik Nho, Kyung-Ah Sohn*, Dokyoon Kim*. MildInt: Deep learning-based multimodal longitudinal data integration framework. Frontiers in Genetics, doi: 10.3389/fgene.2019.00617, 2019 [PubMed]

Jason E Miller, Raghu P Metpally, Thomas N Pearson, Sarathbabu Krishnamurthy, Venkata Ramesh Dasari, Daniel R Lavage, Adam M Cook, John Nash, David J Carey, Marylyn D Ritchie, Dokyoon Kim, Radhika Gogoi, on behalf of the DiscovEHR collaboration. Systematic characterization of germline variants from the DiscovEHR study endometrial carcinoma population. BMC Medical Genomics, 12(1):59, 2019 [PubMed]

Gahyun Bang§, Venkata Ramesh Dasari§, Dokyoon Kim, Radhika Gogoi. Differential gene expression induced by Verteporfin in endometrial cancer cells. Scientific Reports, 9(1):3839, 2019 [PubMed]

Jason H. Moore, Mary Regina Boland, Pablo G. Camara, Hannah Chervitz, Graciela Gonzalez, Blanca E. Himes, Dokyoon Kim, Danielle L. Mowery, Marylyn D. Ritchie, Li Shen, Ryan J. Urbanowicz, John H. Holmes. Preparing next generation scientists for biomedical big data: Artificial intelligence approaches. Personalized Medicine, doi: 10.2217/pme-2018-0145,  2019  [PubMed]

Garam Lee§, Kwangsik Nho§, Byungkon Kang, Kyung-Ah Sohn*, Dokyoon Kim*. Predicting Alzheimer's disease progression using multi-modal deep learning approach. Scientific Reports, 9(1):1952,  2019  [PubMed]

Seonggyun Han, Seyoun Byun, Jason E. Miller, Dokyoon Kim, Shannon Risacher, Andrew Saykin, Younghee Lee, Kwangsik Nho. Identification of exon skipping events associated with Alzheimer’s disease in the human hippocampus. BMC Medical Genomics, 12(Suppl 1):13,  2019  [PubMed]

Anurag Verma, Lisa Bang, Jason E. Miller, Yanfei Zhang, Ming Ta Michael Lee, Yu Zhang, Marta Bryska-Bishop, David J. Carey, Marylyn D. Ritchie, Sarah A. Pendergrass, Dokyoon Kim*, on behalf of the DiscovEHR collaboration. Human-disease phenotype map derived from PheWAS across 38,682 individuals. American Journal of Human Genetics, 104(1):55-64,  2019  [PubMed]

2018

Shefali S. Verma, Anurag Verma, Dokyoon Kim, Christian Darabos. Session Introduction - Pattern recognition in biomedical data: Challenges in putting big data to work. Pacific Symposium on Biocomputing 2019 (PSB), doi.org/10.1142/9789813279827_0001,  2018  [PubMed]

Jason E Miller, Manu Shivakumar, Younghee Lee, Seonggyun Han, Emrin Horgousluoglu, Shannon L. Risacher, Andrew J. Saykin, Kwangsik Nho*, 

Dokyoon Kim*. Rare variants in the splicing regulatory elements of EXOC3L4 are associated with brain glucose metabolism in Alzheimer’s disease. 

BMC Medical Genomics, 11(Suppl 3):76,  2018  [PubMed

Yasser EL-Manzalawy, Tsung-Yu Hsieh, Manu Shivakumar, Dokyoon Kim*, Vasant Honavar*. Min-redundancy and max-relevance multi-view feature selection for predicting ovarian cancer survival using multi-omics data. BMC Medical Genomics, 11(Suppl 3):71,  2018  [PubMed]

Shefali Verma, Anastasia M Lucas, Xinyuan Zhang, Yogasudha Veturi, Scott Dudek, Binglan Li, Ruowang Li, Ryan Urbanowicz, Jason H Moore, Dokyoon Kim, Marylyn D Ritchie. Collective feature selection to identify crucial epistatic variants. BioData Mining, doi: 10.1186/s13040-018-0168-6,  2018  [PubMed

Ruowang Li, Dokyoon Kim, Scott Dudek, Heather Wheeler, Eileen Dolan, Marylyn D Ritchie. Integration of genetic and functional genomics data to uncover chemotherapeutic induced cytotoxicity. Pharmacogenomics, doi: 10.1038/s41397-018-0024-6,  2018  [PubMed

Seonggyun Han, Dongwook Kim, Youngjun Kim, Kanghoon Choi, Jason Miller, Dokyoon Kim, Younghee Lee*. CAS-viewer: Web-based tool for splicing-guided integrative analysis of multi-omics cancer data. BMC Medical Genomics, 11(Suppl 2):25,  2018  [PubMed]

Younghee Lee, Seonggyun Han, Dongwook Kim, Dokyoon Kim, Emrin Horgousluoglu, Shannon L. Risacher, Andrew J. Saykin, Kwangsik Nho. Genetic variation affecting exon skipping contributes to brain structural atrophy in Alzheimer’s disease. AMIA 2018 Informatics Summit, 2017:124-131,  2018 [PubMed]

Dongwook Kim, Manu Shivakumar, Michael Sinclair, Youngji Lee, Dokyoon Kim*, Younghee Lee*. Population-dependent Intron Retention and DNA Methylation in Breast Cancer. Molecular Cancer Research, 16(3):461-469,  2018  [PubMed]

Han Seonggyun, Dongwook Kim, Manu Shivakumar, Jason E Miller, Youngji Lee, Tullika Garg, Ju Han Kim*, Dokyoon Kim*, Younghee Lee*. The effects of alternative splicing on miRNA binding sites in bladder cancer. PLoS ONE, 13(1):e0190708,  2018  [PubMed

Jason E Miller, Manu K. Shivakumar, Shannon L. Risacher, Andrew J. Saykin, Seunggeun Lee, Kwangsik Nho*, Dokyoon Kim*. Codon bias among synonymous rare variants is associated with Alzheimer’s disease imaging biomarker. Pacific Symposium on Biocomputing 2018 (PSB), 23:365-376,  2018  [PubMed

2017

Molly A Hall, John Wallace, Anastasia Lucas, Dokyoon Kim, Anna Basile, Shefali S Verma, Cathy A McCarty, Murray Brilliant, Peggy L. Peissig, Terrie Kitchner, Anurag Verma, Sarah Pendergrass, Scott Dudek, Jason H. Moore, Marylyn D. Ritchie. PLATO software provides analytic framework for investigating complexity beyond genome-wide association studies. Nature Communications, 8(1):1167,  2017  [PubMed]

Manu Shivakumar§, Younghee Lee§, Lisa Bang, Tullika Garg, Kyung-ah Sohn*, Dokyoon Kim*. Identification of epigenetic interactions between miRNA and  DNA methylation associated with gene expression as potential prognostic markers in bladder cancer. BMC Medical Genomics, 10(Suppl 1):30,  2017 [PubMed]

Jong Jin OH, Soo Ji Lee, Joo-Yeon Hwang, Dokyoon Kim, Sang Eun Lee, Sung Kyu Hong, Jin-Nyoung Ho, Sungroh Yoon, Joohon Sung, Wun-Jae Kim, Seok-Soo Byun. Exome-based genome-wide association study and risk assessment using genetic risk score to prostate cancer in the Korean population, Oncotarget, 8(27):43934-43943,  2017  [PubMed]

Dokyoon Kim, Anna O. Basile, Lisa Bang, Emrin Horgusluoglu, Seunggeun Lee, Marylyn D. Ritchie, Andrew J. Saykin, Kwangsik Nho. Knowledge-driven binning approach for rare variant association analysis: Application to neuroimaging biomarkers in Alzheimer’s disease. BMC Medical Informatics and Decision Making, 17(Suppl 1):61,  2017  [PubMed]

Garam Lee, Lisa Bang, So Yeon Kim, Dokyoon Kim*, Kyung-Ah Sohn*. Identifying subtype-specific associations between gene expression and DNA methylation profiles in breast cancer. BMC Medical Genomics, 10(Suppl 1):28,  2017  [PubMed]

Ruowang Li, Dokyoon Kim, Marylyn D. Ritchie. Methods to analyze big data in pharmacogenomics research. Pharmacogenomics, 18(8):807-820,  2017  [PubMed]

Kwangsik Nho, Sungeun Kim, Emrin Horgusluoglu, Shannon L. Risacher, Li Shen, Dokyoon Kim, Seunggeun Lee, Tatiana Foroud, Leslie M. Shaw, John Q. Trojanowski, Paul S. Aisen, Ronald C. Petersen, Clifford R. Jack, Michael W. Weiner, Robert C. Green, Arthur W. Toga, Andrew J. Saykin. Association analysis of rare variants near the APOE region with CSF and neuroimaging biomarkers of Alzheimer’s disease. BMC Medical Genomics, 10(Suppl 1):29,  2017  [PubMed]

Dokyoon Kim, Heather Volk, Santhosh Girirajan, Sarah Pendergrass, Molly Hall, Shefali Setia, Rebecca J. Schmidt, Robin L. Hansen, Debashis Ghosh, Kyoungmi Kim, Marylyn D. Ritchie, Irva Hertz-Picciotto, Scott Selleck. Interactions between air pollution exposure and copy number variation confer significant risk for autism. Autism Research, 10(9):1470-1480,  2017  [PubMed]

Sehee Wang, Hyung-hwan Jeong, Dokyoon Kim, Kyubum Wee, Hae-Sim Park, Seung-Hyun Kim, Kyung-Ah Sohn. Integrative information theoretic network analysis for genome-wide association study of aspirin exacerbated respiratory disease in Korea. BMC Medical Genomics, 10(Suppl 1):31, 2017  [PubMed]

2016

Dokyoon Kim, Ruowang Li, Anastasia Lucas, Shefali Verma, Scott Dudek, Marylyn Ritchie. Using knowledge-driven genomic interactions for multi-omics data analysis: metadimensional models for predicting clinical outcomes in ovarian carcinoma. J Am Med Inform Assoc, 24(3):577-587,  2016 (Selected in Russ Altman’s Year in Review 2017)  [PubMed]

Ruowang Li, Scott Dudek, Dokyoon Kim, Molly A. Hall, Yuki Bradford, Peggy Peissig, Murray Brilliant, James Linneman, Catherine A. McCarty, Le Bao, Marylyn D. Ritchie. Identification of genetic interaction networks via an evolutionary algorithm evolved Bayesian network. BioData Mining, 9:18,  2016  [PubMed]

Kwangsik Nho, Emrin Horgusluoglu, Sungeun Kim, Shannon Risacher, Dokyoon Kim, Tatiana Foroud, Paul Aisen, Ronald Petersen, Clifford Jack, Leslie Shaw, John Trojanowski, Michael Weiner, Robert Green, Arthur Toga and Andrew J. Saykin Andrew J. Saykin. Integration of bioinformatics and imaging informatics for identifying rare PSEN1 variants in Alzheimer’s disease. BMC Med Genomics, 9 Suppl 1:30,  2016  [PubMed]

Dokyoon Kim, Anastasia Lucas, Joseph Glessner, Shefali S. Verma, Yuki Bradford, Ruowang Li, Alex T. Frase, Hakon Hakonarson, Catherine A. McCarty, Peggy Peissig, Murray Brilliant, Marylyn D. Ritchie. Biofilter as a functional annotation pipeline for common and rare copy number burden. Pacific Symposium on Biocomputing 2017 (PSB), 21:357-68,  2016  [PubMed]

2015

Marylyn D. Ritchie, Emily R. Holzinger, Ruowang Li, Sarah A. Pendergrass, Dokyoon Kim. Methods of integrating data to uncover genotype-phenotype interactions. Nature Reviews Genetics, 16(2), 85-97,  2015  [PubMed]

Dokyoon Kim, Ruowang Li, Scott M. Dudek, Marylyn D. Ritchie. Predicting censored survival data based on the interactions between meta-dimensional omics data in breast cancer. J Biomed Inform, 56, 220-228,  2015  [PubMed]

Dokyoon Kim, Ruowang Li, Scott M. Dudek, John R. Wallace, Marylyn D. Ritchie. Binning somatic mutations based on biological knowledge for predicting survival: an application in renal cell carcinoma. Pacific Symposium on Biocomputing 2016 (PSB), 96-107,  2015  [PubMed]

2014

Dokyoon Kim, Ruowang Li, Scott M. Dudek, Alex T. Frase, Sarah A. Pendergrass, Marylyn D. Ritchie. Knowledge-driven genomic interactions: an application in ovarian cancer. BioData Mining, 7, 20,  2014  [PubMed]

Dokyoon Kim, Je-Gun Joung, Kyung-Ah Sohn, Hyunjung Shin, Marylyn D. Ritchie, Ju Han Kim. Knowledge Boosting: A graph-based integration approach with multi-omics data and genomic knowledge for cancer clinical outcome prediction. J Am Med Inform Assoc, doi:10.1136/amiajnl-2013-002481,  2014  [PubMed]

Ruowang Li, Dokyoon Kim, Scott M. Dudek, Marylyn D. Ritchie. An integrated analysis of genome-wide DNA methylation and genetic variants underlying etoposide-induced cytotoxicity in European and African populations. Lect Notes Comput Sci, 8602:928-938,  2014  [PubMed]

Je-Gun Joung, Dokyoon Kim, Su-Yeon Lee, Hwa Jung Kang, Ju Han Kim. Integrated analysis of microRNA-target interactions with clinical outcomes for cancers. BMC Med Genomics, 7(Suppl 1):S10,  2014  [PubMed]

Dokyoon Kim, Marylyn D. Ritchie. Data integration for cancer clinical outcome prediction. J Health Med Informat, doi:10.4172/2157-7420.1000e122,  2014  [PubMed]

Dokyoon Kim, Hyunjung Shin, Kyung-Ah Sohn, Anurag Verma, Marylyn D. Ritchie, Ju Han Kim. Incorporating inter-relationships between different levels of genomic data into cancer clinical outcome prediction. Methods, 67(3):344-53,  2014  [PubMed]

Jong Jin Oh, Seok Soo Byun, Sang Eun Lee, Sung Kyu Hong, Chang Wook Jeong, Won Suk Choi, Dokyoon Kim, Hae Jong Kim, Soon Chul Myung. Genetic variants in the CYP24A1 gene associated with prostate cancer risk and aggressiveness in a Korean study population. Prostate Cancer P D, 17(2):149-56,  2014  [PubMed]

Jong Jin Oh, Seok Soo Byun, Sang Eun Lee, Sung Kyu Hong, Chang Wook Jeong, Dokyoon Kim, Hae Jong Kim, Soon Chul Myung. Genetic variations in VDR associated with prostate cancer risk and progression in a Korean population. Gene, 533(1):86-93,  2014  [PubMed]

2013

Dokyoon Kim, Ruowang Li, Scott M. Dudek, Marylyn D. Ritchie. ATHENA: Identifying interactions between different levels of genomic data associated with cancer clinical outcomes using grammatical evolution neural network. BioData Mining, 6(1):23,  2013  [PubMed]

Kyung-Ah Sohn§, Dokyoon Kim§, Jaehyun Lim, Ju Han Kim. Relative impact of multi-layered genomic data on gene expression phenotypes in serous ovarian tumors. BMC Systems Biology, 7(Suppl 6):S9,  2013  [PubMed]

Dokyoon Kim, Sungeun Kim, Shannon L. Risacher, Li Shen, Marylyn D. Ritchie, Michael W. Weiner, Andrew J. Saykin, Kwangsik Nho. A graph-based integration of multimodal brain imaging data for the detection of early mild cognitive impairment (E-MCI). Lect Notes Comput Sci, 8159:159-169,  2013  [PubMed]

Dokyoon Kim,§ Hyunjung Shin§, Su-Yeon Lee, Je-Gun Jeong, Ju Han Kim. Intra-relation reconstruction from inter-relation: miRNA to gene expression. BMC Systems Biology, 7(Suppl 3):S8,  2013  [PubMed]

Kanghee Park, Amna Ali, Dokyoon Kim, Yeolwoo An, Minkoo Kim, Hyunjung Shin. Robust predictive model for evaluating breast cancer survivability. Eng Appl Artif Intel, 26(9):2194-2205,  2013  [PubMed]

Je-Gun Jeong, Dokyoon Kim, Kyung Hwa Kim, Ju Han Kim. Extracting coordinated patterns of DNA methylation and gene expression in ovarian cancer. J Am Med Inform Assoc, 20(4):637-642,  2013  [PubMed]

2012

Dokyoon Kim§, Hyunjung Shin§, Young Soo Song, Ju Han Kim. Synergistic effect of different levels of genomic data for cancer clinical outcome prediction. J Biomed Inform, 45(6):1191-1198,  2012  [PubMed]

Heewon Seo, Dokyoon Kim, Jong-Hee Chae, Hee Gyung Kang, Byung Chan Lim, Hae Il Cheong, Ju Han Kim. Development of Korean rare disease knowledge base. Health Inform Res, 18(4):272-278,  2012  [PubMed]

Young Soo Song, Hye Won Lee, Yu Rang Park, Dokyoon Kim, Jaehyun Sim, Hyunseok Peter Kang, Ju Han Kim. TMA-TAB: A spreadsheet-based document for exchange of tissue microarray data based on the Tissue Microarray-Object Model. J Biomed Inform, 43:435-441,  2010  [PubMed]

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