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Younghee Lee

Younghee Lee, PhD

Languages spoken: English, Korean

Academic Information

Departments Adjunct - Biomedical Informatics

Academic Office Information

Research Interests

  • Translational Bioinformatics
  • Population Genomics
  • Health Disparities
  • Alternative Splicing
  • Breast Cancer

Dr. Younghee Lee earned her PhD in Bioinformatics from Ewha Womans University. She was a postdoctoral scholar and a faculty in the Section of Genetic Medicine at the University of Chicago School of Medicine. She is currently an Assistant Professor at the University of Utah's Biomedical Informatics Department and Education Director of the University of Utah Asia Campus, Korea.

Specialties: Translatoinal Bioinformatics

Research Statement

For decades, high throughput technologies have successfully captured diverse genome-wide sequence information, quantitative gene expression, and regulatory information. The generation of huge volumes of data by these technologies, ‘omics’ have made remarkable contributions to building a comprehensive list of functional elements in the human genome. We are still learning how to translate these data into biological and clinical knowledge. The primary challenge at hand is determining how to connect genotype with phenotype using those data. Our research contributes to this endeavor by focusing on the study of characterizing the systems-level properties and molecular basis of human disease by integrating and interpreting genome, epigenome and transcriptome. Go to

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Education History

Postdoctoral Fellowship University of Chicago
Postdoctoral Fellow
Ewha Womans University

Selected Publications

Journal Article

  1. Jason Miller, Manu Shivakumar, Younghee Lee, Kwangsik Nho and Dokyoon Kim (In Press). Rare variants in the Splicing Regulatory Elements of EXOC3L4 are associated with brain glucose metabolism in Alzheimer’s disease. (Epub ahead of print) BMC Bioinformatics.
  2. Younghee Lee, Seonggyun Han, Dongwook Kim, Dokyoon Kim, EmrinHorgousluoglu, Shannon L Risacher, Andrew J Saykin, and Kwangsik Nho (2018). Genetic variation affecting exon skipping contributes to brain structural atrophy in Alzheimer’s disease. AMIA Jt Summits Transl Sci Proc.
  3. Seonggyun Han, Dongwook Kim, Youngjun Kim, Kanghoon Choi, Jason Miller, DokyoonKim, and Younghee Lee (2018). CAS-viewer: Web-based tool for splicing-guided integrative analysis of multi-omics cancer data. BMC Bioinformatics.
  4. Dongwook Kim, Mr Manu Shivakumar, Seonggyun Han, Dr Michael S Sinclair, Youngji Lee, Dr Yonglan Zheng, Dr Olufunmilayo I Olopade, Dokyoon Kim, and Younghee Lee (2018). Population-dependent intron retention and DNA methylation in breast cancer. Mol Cancer Res.
  5. Seonggyun Han, Dongwook Kim, Manu K Shivakumar, Young-Ji Lee, Tullika Garg, Jason J Miller, Juhan Kim, Dokyoon Kim, and Younghee Lee (2018). The effects of alternative splicing on miRNA binding sites in bladder cancer. PLoS One.
  6. Eric R Gamazon, Anuar Konkashbaev, Eske M Derks, Nancy J Cox, and Younghee Lee (2017). Evidence of selection on loci affecting splicing in human populations and application to disease mapp. Sci Rep.
  7. Manu Shivakumar, Younghee Lee, Lisa Bang, Tullika Gary, Kyong-ah Sohn, and Dokyoon Kim (2017). Identification of epigenetic interactions between miRNA and DNA methylation associated with gene expression as potential prognostic markers in bladder cancer. BMC Genomics.
  8. Hungate EA, Vora SR, Gamazon ER, Moriyama T, Best T, Hulur I, Lee Y, Evans TJ, Ellinghaus E, Stanulla M, Rudant J, Orsi L, Clavel J, Milne E, Scott RJ, Pui CH, Cox NJ, Loh ML, Yang JJ, Skol AD, Onel K (2016). A variant at 9p21.3 functionally implicates CDKN2B in paediatric B-cell precursor acute lymphoblastic leukaemia aetiology. Nat Commun, 7, 10635.
  9. Prasain N, Lee MR, Vemula S, Meador JL, Yoshimoto M, Ferkowicz MJ, Fett A, Gupta M, Rapp BM, Saadatzadeh MR, Ginsberg M, Elemento O, Lee Y, Voytik-Harbin SL, Chung HM, Hong KS, Reid E, ONeill CL, Medina RJ, Stitt AW, Murphy MP, Rafii S, Broxmeyer HE, Yoder MC (2014). Differentiation of human pluripotent stem cells to cells similar to cord-blood endothelial colony-forming cells. Nat Biotechnol, 32(11), 1151-1157.
  10. Lee Y, Li H, Li J, Rebman E, Achour I, Regan KE, Gamazon ER, Chen JL, Yang XH, Cox NJ, Lussier YA (2013). Network models of genome-wide association studies uncover the topological centrality of protein interactions in complex diseases. J Am Med Inform Assoc, 20(4), 619-29.
  11. Fackenthal JD, Lee Y, Olopade OI (2012). Hidden dangers: a cryptic exon disrupts BRCA2 mRNA. Clin Cancer Res, 18(18), 4865-7.
  12. Li H, Lee Y, Chen JL, Rebman E, Li J, Lussier YA (2012). Complex-disease networks of trait-associated single-nucleotide polymorphisms (SNPs) unveiled by information theory. J Am Med Inform Assoc, 19(2), 295-305.
  13. Lee Y, Gamazon ER, Rebman E, Lee Y, Lee S, Dolan ME, Cox NJ, Lussier YA (2012). Variants affecting exon skipping contribute to complex traits. PLoS Genet, 8(10), e1002998.
  14. Lee Y, Yang X, Huang Y, Fan H, Zhang Q, Wu Y, Li J, Hasina R, Cheng C, Lingen MW, Gerstein MB, Weichselbaum RR, Xing HR, Lussier YA (2010). Network modeling identifies molecular functions targeted by miR-204 to suppress head and neck tumor metastasis. PLoS Comput Biol, 6(4), e1000730.
  15. Lee Y, Li J, Gamazon E, Chen JL, Tikhomirov A, Cox NJ, Lussier YA (2010). Biomolecular Systems of Disease Buried Across Multiple GWAS Unveiled by Information Theory and Ontology. AMIA Jt Summits Transl Sci Proc, 2010, 31-5.
  16. Lee Y, Lee Y, Kim B, Shin Y, Nam S, Kim P, Kim N, Chung WH, Kim J, Lee S (2007). ECgene: an alternative splicing database update. Nucleic Acids Res, 35(Database issue), D99-103.
  17. Kim P, Kim N, Lee Y, Kim B, Shin Y, Lee S (2005). ECgene: genome annotation for alternative splicing. Nucleic Acids Res, 33(Database issue), D75-9.