본 연구실은 생물정보학, 통계학, 기계학습 등의 다양한 기법을 적용하여 대규모 유전체 데이터와 EMR로부터 추출한 임상 데이터를 연계하여 다양한 인간 질환의 원인이 되는 유전 변이 및 유전자를 발굴함. 또한, 환자의 유전 프로파일 및 건강 프로파일을 통합하여 질병을 조기에 탐지하고, 예방하며, 맞춤화된 치료를 제안할 수 있는 시스템을 개발함. 본 연구실은 유전체학, 생물정보학, 데이터분석 분야에서 Nature, New England Journal of Medicine, JAMA, JACC, Eur Heart J, Nature Genetics에 연구 결과를 발표하였고, 80편 이상의 국제논문을 출판함.
학력
(Ph.D.) 2007 - 2011 공학박사, KAIST 바이오및뇌공학과
약력/경력
2004 - 2012 연구원, 삼성생명과학연구소
2012 - 2015 Research Fellow, Massachusetts General Hospital, Broad Institute, Harvard Medical School
2016 - 2020 조교수, 삼성서울병원 삼성미래의학연구원
2016 - 2020 조교수, 성균관대학교 삼성융합의과학원
학술지 논문
(2024)
Genome-wide association analyses using machine learning-based phenotyping reveal genetic architecture of occupational creativity and overlap with psychiatric disorders.
PSYCHIATRY RESEARCH.
333,
1
(2024)
Shared genetic architectures of educational attainment in East Asian and European populations.
NATURE HUMAN BEHAVIOUR.
8,
3
(2023)
Prioritization of therapeutic targets for dyslipidemia using integrative multi-omics and multi-trait analysis.
CELL REPORTS MEDICINE.
4,
9
(2023)
An atlas of associations between 14 micronutrients and 22 cancer outcomes: Mendelian randomization analyses.
BMC MEDICINE.
21,
1
(2023)
Leveraging genetic overlap between irritability and psychiatric disorders to identify genetic variants of major psychiatric disorders.
EXPERIMENTAL AND MOLECULAR MEDICINE.
55,
6
(2023)
ICD2Vec: Mathematical representation of diseases.
JOURNAL OF BIOMEDICAL INFORMATICS.
141,
(2023)
Multimodal deep learning of fundus abnormalities and traditional risk factors for cardiovascular risk prediction.
NPJ DIGITAL MEDICINE.
6,
14
(2022)
Transferability of Alzheimer Disease Polygenic Risk Score Across Populations and Its Association With Alzheimer Disease-Related Phenotypes.
JAMA NETWORK OPEN.
5,
12
(2022)
Polygenic risk for type 2 diabetes, lifestyle, metabolic health, and cardiovascular disease: a prospective UK Biobank study.
CARDIOVASCULAR DIABETOLOGY.
21,
1
(2022)
Shared genetic architectures of subjective well-being in East Asian and European ancestry populations.
NATURE HUMAN BEHAVIOUR.
6,
7
(2022)
Improving polygenic prediction in ancestrally diverse populations.
NATURE GENETICS.
54,
5
(2021)
Genome-wide association study of occupational attainment as a proxy for cognitive reserve.
BRAIN.
145,
4
(2021)
Association between adiposity and cardiovascular outcomes: an umbrella review and meta-analysis of observational and Mendelian randomization studies.
EUROPEAN HEART JOURNAL.
42,
34
(2021)
Comprehensive characterization of distinct genetic alterations in metastatic breast cancer across various metastatic sites.
NPJ BREAST CANCER.
7,
1
(2021)
Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology.
NATURE GENETICS.
53,
6
(2021)
GWAS Analysis of 17,019 Korean Women Identifies the Variants Associated with Facial Pigmented Spots.
JOURNAL OF INVESTIGATIVE DERMATOLOGY.
141,
3
(2020)
Tissue-specific genetic features inform prediction of drug side effects in clinical trials.
SCIENCE ADVANCES.
6,
37
(2019)
No causal effects of serum urate levels on the risk of chronic kidney disease: A Mendelian randomization study.
PLOS MEDICINE.
16,
1
(2017)
Protein-Truncating Variants at the Cholesteryl Ester Transfer Protein Gene and Risk for Coronary Heart Disease.
CIRCULATION RESEARCH.
121,
1
(2017)
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.
NATURE.
544,
7649
