Assistant Professor of Pediatrics
Boston Children's Hospital
Nephrology Enders 505
300 Longwood Ave
Boston MA 02115
|KAIST, Daejeon, South Korea||B.S.||08/2007||Computer Science|
|KAIST, Daejeon, South Korea||B.S.||08/2007||Biological Science|
|Johns Hopkins University, Baltimore, MD, USA||Ph.D.||03/2013||Biomedical Engineering|
|McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA||Postdoctoral fellow||03/2018||Human Genetics|
|Center for Human Genetics & Genomics, New York University School of Medicine, New York, NY, USA||Postdoctoral fellow||08/2019||Human Genetics|
Nupur Dinesh Thekdi Award
Manton Center Endowed Scholar Award
OFD/BTREC/CTREC Faculty Career Development Fellowship Award
Nephrotic Syndrome Study Network (NEPTUNE) Career Enhancement Award
Our group studies disease-associated genetic variants using computational approaches with a specific focus on transcriptional regulatory mechanisms. We have developed several machine-learning based methods for predicting regulatory elements and regulatory variants (Lee et al., Nature Genetics 2015). We have shown that these predicted regulatory variants explain a significant proportion of heritability in a tissue-specific manner (Lee et al., Genome Research 2018). Our group will continue to develop computational methods to model regulatory control of human diseases, by incorporating improved machine-learning algorithms and single-cell multi-omic data (genomic, transcriptomic, and epigenomic.) New computational frameworks will help discover the molecular mechanisms driving the development and progression of human diseases.
The research activities and funding listed below are automatically derived from
NIH ExPORTER and other sources, which might result in incorrect or missing items.
to make corrections and additions.
(POLLAK, MARTIN R.)
Aug 15, 2020 - May 31, 2025
Integrating large scale genomics and functional studies to accelerate FSGS/NS discovery
(SAMPSON, MATTHEW GORDON)
Sep 18, 2019 - Aug 31, 2024
Whole Genome Sequencing for Nephrotic Syndrome Discovery
May 1, 2018 - Apr 30, 2020
Cardiac genetic effects across HLBS phenotypes
Aug 1, 2015 - Apr 30, 2019
Genomics of blood pressure-induced target organ damage
Sep 1, 2007 - Jan 31, 2022
From GWAS loci to blood pressure genes, variants & mechanisms
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