김준호 교수님(Junho Kim)

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작성일 21-07-22 16:00


김준호 교수.jpg

 김준호 (Junho Kim)













 Research Background

Advances in next-generation sequencing (NGS) technologies have created an unprecedented opportunity for the discovery of genetic contribution to human traits and diseases. The overall aim of our group is to understand genetic mechanisms related to human disease processes and characterize implicated genomic mutations and functional changes using high-throughput NGS data. To achieve this goal, we develop and apply computational genomics and bioinformatic approaches and perform integrative analyses of DNA- and RNA-sequencing data. Our research currently focuses on:


Computational method development for genomic sequence analysis

We aim to develop computational approaches and statistical models to analyze data generated using the latest genomics technologies. We are particularly interested in the method development for identifying rare somatic mutations that exist only in a small fraction of cell population or even in a single cell.

Establishing the role of genomic mutations in human diseases

A large amount of sequencing data and developed computational methods enable us to identify multiple types of mutations in our genome. We aim to characterize various types of mutations from the genomes of patients with multiple diseases, and infer the underlying mechanisms that lead to disease pathogenesis. We are particularly interested in investigating the role of somatic mutations in non-cancerous diseases, especially in brain disorders.



 Academic Employments and Education

 2021 - : Assistant Professor, Sungkyunkwan University, Korea
 2017 - 2021: Postdoctoral Research Fellow, Boston Children’s Hospital / Harvard Medical School, USA
 2014 - 2017: Postdoctoral Researcher, Yonsei University College of Medicine, Korea
 2009 - 2014: Ph.D., Department of Bio and Brain Engineering, KAIST, Korea

 2008 - 2009: M.S., Department of Bio and Brain Engineering, KAIST, Korea

 2004 - 2008: B.S., Department of Bio and Brain Engineering, KAIST, Korea


 Professional Contributions

 2021-Present: Program chair, The 15th International Conference on Data and Text Mining in Biomedicine (DTMBIO)
 2016-2017: Member, International Society for Computational Biology
 2012-2013: Review Committee, The 6th Asian Young Researchers Conference on Computational and Omics Biology (AYRCOB)
 2011-2012: Program Committee, The 5th Asian Young Researchers Conference on Computational and Omics Biology (AYRCOB)

 Research Publications

J Kim, B Zhao, AY Huang, MB Miller, MA Lodato, CA Walsh* and EA Lee*, APP gene copy number changes reflect exogenous contamination, Nature, 2020, 584.7821: E20-E28.

J Kim, D Kim, JS Lim, JH Maeng, H Son, HC Kang, H Nam, JH Lee* and S Kim*, The use of technical replication for detection of low-level somatic mutations in next-generation sequencing, Nature Communications, 2019, 10.1: 1047.

JS Lim, R Gopalappa, SH Kim, S Ramakrishna, M Lee, WI Kim, J Kim, SM Park, J Lee, JH Oh, HD Kim, CH Park, JS Lee, S Kim, DS Kim, JM Han, HC Kang, H Kim* and JH Lee*, Somatic Mutations in TSC1 and TSC2 cause focal cortical dysplasia, The American Journal of Human Genetics, 2017, 100.3: 454-472.

J Kim, JH Maeng, JS Lim, H Son, J Lee, JH Lee and S Kim*, Vecuum: identification and filtration of false somatic variants caused by recombinant vector contamination, Bioinformatics 2016, 32 (20): 3072-3080

J Kim, S Kim, H Nam, S Kim* and D Lee*, SoloDel: A probabilistic model for detecting low-frequent somatic deletions from unmatched sequencing data, Bioinformatics 2015, 31(19): 3105-3113

JS Lim, WI Kim, HC Kang, SH Kim, AH Park, EK Park, YW Cho, S Kim, HM Kim, JA Kim, J Kim, H Rhee, SG Kang, HD Kim, D Kim, DS Kim* and JH Lee*, Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy, Nature Medicine 2015, 21 395-400

J Kim, JY Shin, JI Kim, JS Seo, MJ Webster, D Lee* and S Kim*, Somatic deletions implicated in functional diversity of brain cells of individuals with schizophrenia and unaffected controls, Scientific reports 2014, 4:3807.

Y Hwang, J Kim, JY Shin, JI Kim, JS Seo, MJ Webster, D Lee* and S Kim*, Gene expression profiling by mRNA sequencing reveals increased expression of immune/inflammation-related genes in the hippocampus of individuals with schizophrenia, Translational psychiatry 2013, 3:e321.


 Research Grants

 2019 - Present (Co-I) Systematic Analysis of Genetic Mosaicism in FTD/ALS Brains, CDMRP PRMRP Discovery Award, Department of Defense (DoD), USA



 생명과학II (Biological Science II)학부, 가을학기




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