Publications

Peer-Reviewed Publications

Legend: First Author; Corresponding Author†; *Equal First Author

2026

• Wu, H*., Lee, C.H.*, Abiri, N., & Ionita-Laza, I. Domain-aware matrix completion for phenotype prediction from Electronic Health Record data with applications to genomic analyses. Ann. Appl. Stat. (Accepted). [Co-First Author]

2025

• Lee, C.H., Khan, A., Wang, C., Weng, C., Buxbaum, J.D., Kiryluk, K., & Ionita-Laza, I. Liability threshold model-based disease risk prediction based on electronic health record phenotypes. Nature Genetics (2025). [First Author]
• Lee, C.H.† Pleiotropy in Multitrait Genome-Wide Association Studies: Approaches and Insights from Schizophrenia–Cognition Analyses. Biological Psychiatry 98(9), 650–651 (2025). [First Author, Corresponding Author]
• Luo, Y., Khan, A., Liu, L., Lee, C.H., Perreault, G.J., Pomenti, S.F., Gourh, P., Kiryluk, K., Bernstein, E.J. Cross-phenotype genome-wide association study of systemic sclerosis and primary biliary cholangitis. Arthritis & Rheumatology 77(6), 727–739 (2025). [Co-Author]

2023

• Jung, S*., Lee, C.H.*, Sul, J.H., & Han, B. Building an optimal predictive model for imputing tissue-specific gene expression by combining genotype and whole-blood transcriptome data. HGG Adv 4(4), 100223 (2023). [Co-First Author]

2021

• Lee, C.H., Shi, H., Pasaniuc, B., Eskin, E., & Han, B. PLEIO: a method to map and interpret pleiotropic loci with GWAS summary statistics. American Journal of Human Genetics 108(1), 36–48 (2021). [First Author]

2018

• Kang, E.Y*., Lee, C.H.*, Furlotte, N.A., Joo, J.W.J., Kostem, E., Zaitlen, N., Eskin, E., & Han, B. An Association Mapping Framework To Account for Potential Sex Difference in Genetic Architectures. Genetics 209(3), 685–698 (2018). [Co-First Author]
• Han, B., Akiyama, M., Kim, K.K., Oh, H., Choi, H., Lee, C.H., Jung, S., Lee, H.S., Kim, E.E., Cook, S., Haritunians, T., Yamazaki, K., Park, S.H., Ye, B.D., McGovern, D.P.B., Esaki, M., Kawaguchi, T., Khor, S.S., Taylor, K.D., ... Song, K. Amino acid position 37 of HLA-DRbeta1 affects susceptibility to Crohn's disease in Asians. Human Molecular Genetics 27(22), 3901–3910 (2018). [Co-Author]

2017

• Lee, C.H., Eskin, E., & Han, B. Increasing the power of meta-analysis of genome-wide association studies to detect heterogeneous effects. Bioinformatics 33(14), i379–i388 (2017). [First Author]
• Kim, E.E., Lee, S., Lee, C.H., Oh, H., Song, K., & Han, B. FOLD: a method to optimize power in meta-analysis of genetic association studies with overlapping subjects. Bioinformatics 33(24), 3947–3954 (2017). [Co-Author]

2016

• Yang, S.K., Hong, M., Oh, H., Low, H.Q., Jung, S., Ahn, S., Kim, Y., Baek, J., Lee, C.H., Kim, E., Kim, K.M., Ye, B.D., Kim, K.J., Park, S.H., Lee, H.S., Lee, I., Shin, H.D., Han, B., McGovern, D.P.B., ... Song, K. Identification of loci at 1q21 and 16q23 that affect susceptibility to inflammatory bowel disease in Koreans. Gastroenterology 151(6), 1096+ (2016). [Co-Author]
• van 't Hof, F.N., Ruigrok, Y.M., Lee, C.H., Ripke, S., Anderson, G., de Andrade, M., Baas, A.F., Blankensteijn, J.D., Bottinger, E.P., Bown, M.J., Broderick, J., Bijlenga, P., Carrell, D.S., Crawford, D.C., Crosslin, D.R., Ebeling, C., Eriksson, J.G., Fornage, M., Foroud, T., ... de Bakker, P.I. Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms. J Am Heart Assoc 5(7) (2016). [Co-Author]
• Lee, C.H., Cook, S., Lee, J.S., & Han, B. Comparison of Two Meta-Analysis Methods: Inverse-Variance-Weighted Average and Weighted Sum of Z-Scores. Genomics Inform 14(4), 173–180 (2016). [First Author]
• Jung, J*., Lee, C.H.*, Seol, H.S., Choi, Y.S., Kim, E., Lee, E.J., Rhee, J.K., Singh, S.R., Jun, E.S., Han, B., Hong, S.M., Kim, S.C., & Chang, S. Generation and molecular characterization of pancreatic cancer patient-derived xenografts reveals their heterologous nature. Oncotarget 7(38), 62533–62546 (2016). [Co-First Author]
• Han, B., Pouget, J.G., Slowikowski, K., Stahl, E., Lee, C.H., Diogo, D., Hu, X., Park, Y.R., Kim, E., Gregersen, P.K., Dahlqvist, S.R., Worthington, J., Martin, J., Eyre, S., Klareskog, L., Huizinga, T., Chen, W.M., Onengut-Gumuscu, S., Rich, S.S., ... Raychaudhuri, S. A method to decipher pleiotropy by detecting underlying heterogeneity driven by hidden subgroups applied to autoimmune and neuropsychiatric diseases. Nat Genet 48(7), 803–810 (2016). [Co-Author]

2015

• Kwak, S.H., Kim, Y.J., Chae, J., Lee, C.H., Han, B., Kim, J.I., Jung, H.S., Cho, Y.M., & Park, K.S. Association of HLA Genotype and Fulminant Type 1 Diabetes in Koreans. Genomics Inform 13(4), 126–131 (2015). [Co-Author]

Fellowship and Grant Support

Current

• 09/2024 – 09/2029   NHGRI (K99/R00) 1K99HG013546 — New York, NY

Past

• 02/2019 – 02/2021   Graduate School Scholarship in Biomedical Sciences, Asan Foundation ($20,000/yr) — Seoul, S. Korea

Conference Presentations – Peer-Selected (International)

• Lee, C.H., Wu, H., Abiri, N., & Ionita-Laza, I. “covImpute: Leveraging Genetic Correlations to Impute Missing EHR Phenotypes.” International Genetic Epidemiology Society, Cologne, Germany, September 2025.
• Lee, C.H., Eskin, E., & Han, B. “Increasing the Power of Meta-Analysis of Genome-Wide Association Studies to Detect Heterogeneous Effects.” ISMB/ECCB, Prague, Czech Republic, July 2017.

Invited Presentations – Regional and National

• Lee, C. H. “Integrating Genomics and EHR Data to Improve Disease Risk Prediction.” Oklahoma University Health Campus, March 2026.
• Lee, C. H. “From Diagnosis to Liability: Quantitative Risk Stratification in Psychiatry Using Genomics and EHR Data.” Department of Psychiatry, University of Pittsburgh, March 2026.
• Lee, C. H. “Integrating EHR Phenotypes and Genomics for Population-Scale Risk Estimation.” Graduate School of Medical Science and Engineering (GSMSE), KAIST, February 2026.
• Lee, C. H. “Rethinking Germline Cancer Risk Modeling Using Population Genomics and Electronic Health Records.” Division of Molecular Medicine, University of New Mexico Comprehensive Cancer Center, January 2026.
• Lee, C. H. “Medical Record-Based Disease Risk Prediction Model (LTPI).” Academic Seminar hosted by Biological Research Information Center (BRIC), Pohang University of Science and Technology, South Korea, January 2026.
• Lee, C. H. “From Phenotypic Correlation to Genetic Liability: Modeling Disease Risk with LTPI.” Division of Epidemiology, Vanderbilt University, December 2025.
• Lee, C. H. “Multi-trait Genetic Inference Using Latent Risk Modeling.” Center for Disease Neurogenomics, Icahn School of Medicine at Mount Sinai, December 2025.
• Lee, C. H. “My Journey to K99: Research Strategy and Innovation Social Lunch.” Office of the Vice Dean for Research Strategy, Columbia University, New York, March 2025.
• Lee, C. H. “Harnessing Pleiotropic Signals to Transform Precision Medicine.” Cancer Control and Population Science Program Meeting, Comprehensive Cancer Center, University of New Mexico, New Mexico, February 2025.

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