The SG100K Cognitive Health Programme
Topic: Mental Health
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Team
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Aims of Project
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Lead PI: Adj Asst Prof Max Lam
Lee Kong Chian School of Medicine
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Co-Lead PI: A/Prof Jimmy Lee
Institute of Mental Health
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Co-Lead PI: Prof Liu Jianjun
A*STAR Genome Institute of Singapore
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Establish the biological underpinnings for cognitive function in diverse
Asian and global populations.
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Establish the biological convergence between cognitive function and disease
traits.
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Establish epidemiological and genomic risk predictors of cognitive health.
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Institutions involved: Lee Kong Chian School of Medicine, Nanyang Technological University, Institute of Mental Health, National Neuroscience Institute, A*STAR Genome Institute of Singapore
The SG100K_Med Alliance – Clinical Genetics Researchers United for the Analysis of Mendelian Disease Variation in SG100K
Topic: Mendelian Diseases
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Team
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Aims of Project
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Lead PI: Asst Prof Lim Weng Khong
Duke-NUS Medical School
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Co-Lead PI: A/Prof Joanne Ngeow
Lee Kong Chian School of Medicine
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Co-Lead PI: A/Prof Saumya Jamuar
Duke-NUS Medical School
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Seek a deeper understanding of genetic disease burden in major Asian populations
through a comprehensive analysis of structural variation and short tandem
repeat expansions.
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Demonstrate how SG100K data can resolve variants of uncertain significance.
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Explore impact of polygenic backgrounds on penetrance in autosomal dominant
conditions for under- represented Asian populations.
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Institutions involved: Duke-NUS Medical School, Lee Kong Chian School of Medicine, KK Women's and Children's Hospital, A*STAR Genome Institute of Singapore, Singapore National Eye Centre, Tan Tock Seng Hospital, National University of Singapore, National Heart Centre Singapore, National Neuroscience Institute, Khoo Teck Puat Hospital, Nanyang Technological University
Identification of Asian-specific Genetic Association with Fat and Lean Muscle Mass Distribution
Topic: Fat and Lean Muscle Mass
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Team
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Aims of Project
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Lead PI: Asst Prof Liu Boxiang
National University of Singapore
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Co-Lead PI: A/Prof Sim Xueling
National University of Singapore
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Co-Lead PI: Prof Tai E Shyong
National University of Singapore
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Perform multi-ethnic meta-analysis of fat and lean muscle mass using SG100K
and UKBB datasets.
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Mendelian randomisation analysis to identify the contribution of fat and
lean muscle mass to cardiometabolic diseases.
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Colocalisation analysis to identify risk genes affecting fat and lean
muscle mass.
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Conduct functional validation studies of identified genetic loci.
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Institutions involved: National University of Singapore
HLA Alleles and its Association with Auto-immune Diseases and Pharmacogenomics in Multi-ancestral Asian Populations
Topic: Human Leukocyte Antigen
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Team
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Aims of Project
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Lead PI: A/Prof Sim Xueling
National University of Singapore
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Co-Lead PI: Adj A/Prof Leong Khai Pang
Tan Tock Seng Hospital
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Co-Lead PI: Dr Wharton Chan
Duke-NUS Medical School
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Generate a high-resolution human leukocyte antigen (HLA) reference panel
in Asian populations.
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Generate frequencies of HLA alleles and haplotypes in Asian populations
for local reference and for global population comparisons.
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Conduct association analyses of HLA alleles in outcomes including auto
immune diseases and pharmacogenomic responses.
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Institutions involved: National University of Singapore, Tan Tock Seng Hospital, Duke-NUS Medical School
Unravelling the Determinants of Kidney Health in a Multi-ethnic Asian Population
Topic: Kidney Disease
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Team
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Aims of Project
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Determine prevalence of chronic kidney disease (CKD) among adults.
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Examine association of CKD with genetic, clinical and socio-behavioural
predictors.
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Examine relative contribution of key predictors driving differences in
CKD risks across different sub- population.
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Develop and validate an integrated risk score for the development of CKD
in a representative multi-ethnic Asian population-based cohort in Singapore.
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Institutions involved: Tan Tock Seng Hospital, Lee Kong Chian School of Medicine
The High Variability of Tandem Repeats Offers Insights into Population Diversity and may Explain the Missing Heritability of Complex Neurological and Neurocognitive Disorders in Asian Populations
Topic: Tandem Repeats
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Team
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Aims of Project
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Lead PI: Prof Liu Jianjun A*STAR Genome Institute of
Singapore
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Co-Lead PI: Dr Nicolas Bertin A*STAR Genome Institute
of Singapore
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Co-Lead PI: Asst Prof Lim Weng Khong Duke-NUS Medical
School
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Generate SG100K genome wide tandem repeats (TR) variation catalogue and
characterisation their respective prevalence in Asian populations.
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Characterise contributions of TR variations to the aetiology of complex
neurological and neurocognitive disorders.
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Institutions involved: A*STAR Genome Institute of Singapore, Duke-NUS Medical School, National Neuroscience Institute
An Integrated Pharmacoeconomic- Pharmacokinetic Framework for Prioritising and Testing Clinically Important Drug-Gene Interactions
Topic: Pharmacogenomics
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Team
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Aims of Project
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Lead PI: Dr Janice Goh A*STAR Bioinformatics Institute
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Co-Lead PI: A/Prof Wee Hwee Lin National University of
Singapore
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Co-Lead PI: Dr Nicolas Bertin A*STAR Genome Institute
of Singapore
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Evaluate the occurrence of known drug-gene interactions based on EHR data
and its impact on efficacy and toxicity.
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Explore genotype-drug response associations using SG100K and linked EHR
datasets augmented by a dedicated pipeline for haplotyping highly polymorphic
drug metabolising enzyme CYP2D6.
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Develop a pharmacokinetics-informed framework for evaluating and ranking
both known and novel drug-gene sets for clinical action to make dose recommendations.
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Institutions involved: A*STAR Bioinformatics Institute, National University of Singapore, A*STAR Genome Institute of Singapore
Genetic Variants Contributing to Clonal Haematopoiesis across Diverse Asian Genomes
Topic: Clonal Haematopoiesis
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Team
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Aims of Project
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Lead PI: Prof Ong Sin Tiong Duke-NUS Medical School
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Co-Lead PI: Prof Ashok Venkitaraman National University
of Singapore
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Co-Lead PI: Prof Chng Wee Joo National University of
Singapore
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Co-Lead PI: Prof John Chambers Lee Kong Chian School
of Medicine
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Co-Lead PI: Dr Nicolas Bertin A*STAR Genome Institute
of Singapore
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Determine age-related incidence of clonal haematopoiesis (CH) among our
three major ancestry groups.
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Correlate CH status with clinical metadata, measures of ageing and disease
incidence, and disease-related variables including biomarkers.
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Discover novel genetic associations with CH.
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Integrate functional genomics for novel Asian CH driver mutation discovery
and validation.
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Correlate CH status with cell clusters and gene expression signatures
in the AIDA scRNA-seq dataset.
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Institutions involved: Duke-NUS Medical School, National University of Singapore, Lee Kong Chian School of Medicine, A*STAR Genome Institute of Singapore, National University Hospital, Singapore General Hospital
Advancing Precision Medicine for Cardiovascular Disease and Diabetes in Asian Populations
Topic: Cardiovascular and Metabolic Diseases
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Team
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Aims of Project
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Lead PI: Prof John Chambers Lee Kong Chian School of
Medicine
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Co-Lead PI: A/Prof Sim Xueling National University of
Singapore
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Co-Lead PI: Prof Chen Ching-Yu Duke-NUS Medical School
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Lead PI: Prof Yeo Khung Keong National Heart Centre Singapore
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Determine the behavioural (including nutrition and physical activity),
environmental, genetic and other molecular factors that underpin CVD and
diabetes in the multi-ethnic Asian population of Singapore.
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Develop and validate algorithms for accurate identification of Asian individuals
who are at increased risk of CVD and diabetes.
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Institutions involved: Lee Kong Chian School of Medicine, National University of Singapore, Duke-NUS Medical School, Singapore Eye Research Institute, National Heart Centre Singapore
