Abstracts

1

SEPT–GD: a decision tree to prioritise potential RNA splice variants in cardiomyopathy genes for functional splicing assays in diagnostics

Dr Mohamed Alimohamed

Muhimbili University of Health and Allied Sciences

2

Single-cell analysis of human diversity in circulating immune cells

Dr Kock Kian Hong

Genome Institute of Singapore, Agency for Science, Technology and Research

3

Understanding the purpose of prescribing is key for enabling shared decision-making with hospitalised patients on antibiotic therapy: A cross-sectional study in Singapore

Dr Angela Chow

Tan Tock Seng Hospital

4

Transforming Genomics Research through Community Engagement: A Case Study from the Pukapuka Community in Aotearoa, New Zealand.

Dr Jaye Moors

Variant Bio

5

Harnessing AI for Precision Antibiotics: Enablers and Ethical Considerations

Dr Angela Chow

Tan Tock Seng Hospital

6

Identifying the unmet needs of Neurofibromatosis Type 1 patients in Singapore

Dr Agnes Lim

Singapore General Hospital

7

Germline pathogenic variants landscape of endometrial cancer in Singapore

Dr Zhang Zewen

National Cancer Centre Singapore

8

10K Newborn Genome Project in Qingdao, China: clinical findings and precision health insights

Dr Gao Ya

BGI Research

9

Social factors and health: Cohort creation to design innovative, targeted intervention strategies and community care models

Dr Lim Wei-Yen

Tan Tock Seng Hospital

10

Utilizing Asian Genomics Data to Identify Vulnerabilities in Hepatocellular Carcinoma Cells

Dr Michael Winther

Engine Biosciences

11

Unlocking the potential of large-cohort proteomics studies with mass spectrometry-based proteomics solution

Dr Xuan Yue

Thermo Fisher Scientific

12

Systematic Review on the Effectiveness of Risk-Based Screening for Cancer Diagnosis

Fahmy Fadzil

Nanyang Technological University

13

Microfluidic isolation of complete platelet-free plasma for enhanced detection of blood extracellular vesicles (EV) microRNAs and surface proteins

Dr Leong Sheng Yuan

Nanyang Technological University

15

Determination of genetic variants associated with Sarcoidosis in Sri Lankan Population

Sawani Rodrigo

University of Colombo

16

TAS-PGx: Targeted Adaptive Sampling-Long Read Sequencing for Enhanced Pharmacogenomics Profiling and Genome-Wide Variant Analysis

Dr Mar Gonzalez-Porta

Nalagenetics

17

Bridging Data and Clinical Decision-making: Case Study Analysis of Hepatocellular Carcinoma with Enhanced Microbiome Insights

Dr Damien Keogh

BluMaiden Biosciences

18

A learning and training agenda with a global focus: Delivering large-scale knowledge and skills development in real-time

Dr Michelle Bishop

Wellcome Connecting Science

19

Whole-genome sequencing of half-a-million China Kadoorie Biobank participants

Dr Jin Xin

BGI Research

20

Addressing the 'Leaky Pipe' in Colorectal Cancer Genetics Referrals: The Critical Need for Optimization

Nur Diana Ishak

National Cancer Centre Singapore

21

A modular approach to compiling data sharing agreements to promote more equitable terms for data sharing.

Dr Tsaone Tamuhla

South African National Bioinformatics Institute

22

Nex Gen Sequencing-based proteomics and their utility in large population health cohorts

Dr Cynthia Lawley

Olink

23

Decoding the molecular ageing spectrum of Asians and its clinical prospects in 10,018 Singaporeans

Dr Ives Lim

Bioinformatics Institute, Agency for Science, Technology and Research

24

Spatial transcriptomic analysis of triple-negative breast cancer occurring during pregnancy and post-involution in women of African ancestry

Dr Victoria Seewaldt

City of Hope Comprehensive Cancer Center

26

Broad-scale proteomics combined with genomics help identify early detection and causal biomarkers in cancer

Dr Cynthia Lawley

Olink Proteomics

27

Genomic Insights into COVID-19 Susceptibility and Severity Among Singaporeans: A Multi-National Platform Initiative

Penny Chan

Bioinformatics Institute, Agency for Science, Technology and Research

28

Is Genetic Testing Cost-effective to Detect and Manage Lynch Syndrome in Singapore?

Sara Tasnim

Lee Kong Chian School of Medicine, Nanyang Technological University

29

Dietary risk factors for visceral adiposity in multiethnic Asian population: An epidemiological and metabolomics study

Dr Theresia Mina

Nanyang Technological University

30

Multi-locus Inherited Neoplasia Alleles Syndromes in Cancer: An updated review and implications for clinical practice

Jeanette Yuen

National Cancer Centre Singapore

32

Genetic counselling and testing for kidney disease by nephrologists – a single-center implementation study

Dr Lee Tung Lin

Singapore General Hospital

33

Strategies to improve implementation of cascade testing in hereditary cancer syndromes: A systematic review

Dr Chiang Jianbang

National Cancer Centre Singapore, Medical Oncology

34

Nephrologists’ perspectives on facilitators and barriers of clinical implementation of genetic testing in Singapore

Ng Jun Li

National University of Singapore

35

Understanding Women's Preferences for Undergoing Breast Cancer Risk Assessment: Insights from a Discrete Choice Experiment

Dr Wang Yi

Saw Swee Hock School of Public Health, National University of Singapore

36

Beyond Lipid Profile: Enhancing Electronic Phenotyping with Unstructured Data

Meenakshi Dubey

National University of Singapore

37

Adherence to risk management guidelines in individuals with hereditary cancer conditions in Singapore

Sowmya Jonnagadla

National Cancer Centre Singapore

39

Vasculature damage and dysmetabolism in heart failure with preserved ejection fraction.

Wu Lik Hang

National University of Singapore

40

Metabolic variation reflects dietary intake in a multi-ethnic Asian population

Dr Dorrain Low

Lee Kong Chian School of Medicine, Nanyang Technological University

41

Creating an efficient and truly federated international data market for genomic and health data.

Dr Oriol Canela-Xandri

University of Edinburgh / Omecu Ltd.

42

Bravo automation of Agilent Avida targeted enrichment for high-throughput detection of genomic alteration and DNA methylation

Dr Lee Chee Yang

Agilent Technologies Singapore

43

Obesity increases susceptibility to symptomatic flaviviral infection and alters host response to infection

Dr Ayesa Syenina

Duke-NUS Medical School

44

The use of optical genome mapping in prenatal evaluation for translocation carriers

Dr Chin Hui-Lin

National University Hospital

45

Fetal Akinesia and biallelic variants in TNNI2

Dr Denise Goh Li Meng

National University of Singapore

46

Precision Medicine for Diabetic Individuals: A Joint Malaysia-UK Effort (PRIME) exploiting a multi-ethnic cohort resource for clinical applications

Dr Rahman Jamal

UKM Medical Molecular Biology Institute (UMBI, Universiti Kebangsaan Malaysia)

47

A proposed framework prioritizing pharmacogenomic drug-gene interactions in an Asian context for chemotherapy

Dr Janice Goh

Bioinformatics Institute, Agency for Science, Technology and Research

48

Empiric treatment with aspirin and ticagrelor is the most cost-effective strategy in patients with minor stroke or transient ischemic attack

Dr Kaavya Narasimhalu

National Neuroscience Institute

49

Genomic landscape of drug binding and pharmacogenetic variation across diverse populations using SNPdrug3D

Dr Ken Chong

Bioinformatics Institute, Agency for Science, Technology and Research

50

Cascade testing for hereditary cancer in Singapore: how population genomics help guide clinical policy

Dr Rebecca Caeser

National Cancer Center Singapore

51

Genetic model predicts lifelong cardiometabolic risks in women.

Dr Pan Hong

Singapore Institute for Clinical Sciences, Agency for Science, Technology and Research

52

Whole genome sequencing reveals a high incidence of germline pathogenic variants in genes associated with sarcoma across subtypes

Isaac Lin

Lee Kong Chian School of Medicine, Nanyang Technological University

53

STCC Unified PD1/PD-L1 Evaluation of Response (SUPER) – a Use-Case Study of the Translational Research Integration and Support Platform

Dr Michał Marek Hoppe

Singapore Translational Cancer Consortium

54

Unlocking Skin's Defenses: Repurposing Belinostat for Atopic Dermatitis Treatment

Dr Gowtham Subramanian

Agency for Science, Technology and Research

55

An End-to-end Privacy-preserving Framework for Predicting Cancer Outcomes

Dr Sim Jun Jie

Institute for Infocomm Research

56

Understanding baseline determinates for mRNA vaccine immunogenicity

Dr Christine Tham

DUKE-NUS Medical School

57

Statin Lactone Metabolism is a Determinant of 5-year Cardiovascular Outcomes Independent of Serum Cholesterol

Eugene Goh

National University of Singapore

58

Genetic Architecture of plasma metabolites in the Southeast Asian population

Dr Pritesh Jain

Lee Kong Chian School of Medicine, Nanyang Technological University

59

Phenotypic variability in Ornithine Transcarbamylase deficiency males with the OTC R277W variant: A case report and review of the literature.

Shreya Surendra Shetty

Division of Genetics and Metabolism, Department of Paediatrics, Khoo Teck Puat-National University Children’s Medical Institute, National University Hospital

60

The Dementias Platform UK (DPUK) IHCC Remote Mentoring Programme: Democratizing collaboration and mentoring for Early Career Researchers (ECRs)

Dr Sarah Bauermeister

University of Oxford

61

Cascade screening for family members of patients with Familial Hypercholesterolemia in Singapore: FHCARE program

Madhuumetaa Selvakumar

Khoo Teck Puat Hospital

62

Targeted Full-Genomic Gene Panel as Diagnostics for Uncovering Deep Intronic Variants in Genetic Disorders

Cher Wei Yuan

Institute of Molecular and Cell Biology, Agency for Science, Technology and Research

63

Spectrum of Compound Heterozygous, Double Heterozygous and Homozygous variants in Index Patients with Familial Hypercholesterolemia in Singapore

Chen Hoe Meng

Clinical Research Unit, Khoo Teck Puat Hospital

64

To test or not to test? A measure of informed choice for Hereditary Breast and Ovarian Cancer Syndrome testing

Chua Zi Yang

National Cancer Centre Singapore

65

From cohorts to the clinic: interactively visualising amyotrophic lateral sclerosis (ALS) future risk projections

Dr Jane Ong Siying

Singapore Institute of Clinical Sciences, Agency for Science, Technology and Research

66

Cost-effectiveness of Pre-emptive Pharmacogenetic Panel Testing versus No Testing in a Multi-ethnic Asian Population

Jamaica Roanne Briones

National University of Singapore

67

Genomic co-localisation, child proteomics and brain imaging support a link between obesity-associated genotype and child language development.

Dr Huang Jian

Singapore Institute for Clinical Sciences

68

From Cohort to Clinic: Return of genetic incidental findings in the population-based Multi-Ethnic Cohort

Dr Sim Xueling

Saw Swee Hock School of Public Health, National University of Singapore

71

A Partially Connected Neural Network for Enhanced Polygenic Risk Score Prediction

Dr Weng Haoyi

WeGene

72

Telomere Length Distribution and Genome-wide Association Study Among Singaporean Cohorts

Trang Nguyen

Nanyang Technological University

73

Plasma proteomic signatures of adiposity are associated with cardiovascular risk factors and type 2 diabetes risk in a multi-ethnic Asian population.

Dr Charlie Lim

Saw Swee Hock School of Public Health, National University of Singapore

74

Metabolome-wide association of carotid intima media thickness in an Asian population cohort identifies FDX1 as a determinant of cholesterol metabolism and cardiovascular risk.

Dr Nilanjana Sadhu

Lee Kong Chian School of Medicine, Nanyang Technological University

75

Integrative analysis of omics summary data reveals putative mechanisms underlying dilated cardiomyopathy

Konstanze Tan

Lee Kong Chian School of Medicine, Nanyang Technological University

76

Leveraging existing large-scale genomic studies for assessment of genetic risk within Singapore

Ashley Lim Jun Wei

National University of Singapore / Illumina Inc.

77

Necessity of case-control joint calling for accurate evaluation of rare variant disease contribution

Neo Jun Hao

National University of Singapore

78

Can polygenic risk scores from different genotyping arrays be used interchangeably?

Dr Ho Peh Joo

Genome Insititute of Singapore

79

Predictors for Positive Genetic Diagnosis of Monogenic Kidney Disease.

Dr Lim Ru Sin

Tan Tock Seng Hospital

80

Early life proteomic markers for child depressive symptoms

Che Jinyi

Singapore Institute for Clinical Sciences, Agency for Science, Technology and Research

81

Genetics and Genomics Education Programmes in Singapore

Dr Koh Ai Ling

KK Women's and Children's Hospital, SingHealth

82

Association of thyroid peroxidase antibodies and high-sensitivity C-reactive protein: a cross-sectional analysis from the ELSA-Brasil study

Dr Isabela Bensenor

Universidade de São Paulo

83

Thyroid peroxidase antibodies are associated with incidence, but not progression, of coronary artery calcification: analysis of the ELSA-Brasil cohort study

Dr Isabela Bensenor

Universidade de São Paulo

84

Constructing a 3D anatomical atlas of hepatic vasculature variants for surgical planning

Dr Too Chow Wei

Singapore General Hospital

85

The Genetic Heterogeneity & Phenotypic Continuum of Developmental and Epileptic Encephalopathies: Data from a Sri Lankan Cohort

Dr Hasani Hewavitharana

Lady Ridgeway Hospital for Children, Ministry of Health

86

De-novo Sub-clustering of Young-Onset Type 2 Diabetes Identify Subgroups with Distinct Clinical Characteristics

Kee Kai Xiang

Khoo Teck Puat Hospital

87

Circulating proteomic profiles are associated with the onset of type 2 diabetes in a multi-ethnic Asian population – a longitudinal study

Dr Liang Yujian

National University of Singapore

88

Deciphering the Epigenetic Role of Small Non-coding RNA in Obesity

Felicia Tin

Singapore Institute for Clinical Sciences, Agency for Science, Technology and Research

89

Can deep learning-based retinal omics personalise cardiovascular disease prediction?

Chan Yarn Kit

Duke-NUS Medical School

90

Coronary calcium score levels and risk for fatal and non-fatal cardiovascular events – the Brazilian Longitudinal Study of Adult Health (ELSA-Brasil)

Dr Isabela Bensenor

Center for Clinical and Epidemiological Research, University Hospital, University of Sao Paulo, Sao Paulo, Brazil

92

Nurturing minds, nourishing bodies: Associations between maternal mental health, feeding practices and child eating behaviours in the GUSTO cohort.

Dr Anna Magdalena Fogel

Singapore Institute for Clinical Sciences, Agency of Science, Technology and Research

93

Predicting early-life BMI Trajectories through Proteomics Data by learning Parametric Koopman Decomposition

Dr Chen Yurui

Department of Mathematics, National University of Singapore, and Singapore Institute for Clinical Sciences, Agency for Science, Technology and Research

94

Public expectations about the public interest of research

Dr G. Owen Schaefer, Marthe Smedinga, Toh Hui Jin

Centre for Biomedical Ethics, Yong Loo Lin School of Medicine, National University of Singapore

95

Spectrum of FBN1 Variants and Their Phenotypic Correlations in a Cohort of Twelve Sri Lankan Patients

Dr Yasas Dahamuna Kolambage

Sabaragamuwa University of Sri Lanka

96

Evaluating quantitative proximity extension assay as a monitoring tool for precision health

Dr Eugenia Ong

Viral Research and Experimental Medicine Centre @ SingHealth Duke-NUS / Duke-NUS Medical School

97

Next generation proteomic profiling of a pan-cancer cohort for the development of screening tools for cancer 

Dr Renu Balyan

Olink Proteomics

98

Severe Combined Immunodeficiency (SCID) Screening in Singapore 

Sherry Poh

KK Women's and Children's Hospital

99

The Human Gut Microbiome in Pregnancy and Early Life: Insights from the GUSTO and S-PRESTO multi-ethnic Asian Cohorts

Dr Xu Jia

Singapore Institute for Clinical Sciences, Agency for Science, Technology and Research

100

Comparing Polygenic risk, Elastic Nets and Interpretable Artificial Intelligence Approaches in the Prediction of Vitamin D Insufficiency in Pregnant Women and their Children 

Dr Geoffrey Tan

Institution of Mental Health Singapore

101

Genetic adaptations of humans to the diverse environments of South America

Dr Amit Gourav Ghosh

Singapore Centre for Environmental Life Sciences Engineering (SCELSE), NTU

102

Virtual panels have a superior diagnostic yield for inherited rare diseases relative to static panels

Dr Massy Sheikh Hassani 

Al Jalila Children's Hospital 

103

From North Asia to South America: Tracing the longest human migration through genomic sequencing 

Dr Kim Hie Lim

Nanyang Technological University 

104

The Nile Delta of Precision Medicine: Prenatal Genomic Care in Highly Inbred Population 

Dr Mohammed Alowain

King Faisal Specialist Hospital and Research Centre

106

Genomics for KIDS in ASEAN: Improving access to genomic medicine for paediatric rare disease in Southeast Asia

Dr Chan Sock Hoai

KK Women's and Children's Hospital

107

Defining and Reducing Variant Classification Disparities Across Human Populations

Dr Irene Gallego Romero

St Vincent's Institute of Medical Research

108

Higher blood biochemistry-based biological age developed by advanced deep learning techniques is associated with frailty in geriatric rehabilitation inpatients: RESORT

Dr Guan Lihuan

National University of Singapore

109

The Federated EGA: A global network for discovery and access for sensitive human data

Dr Thomas Keane

EMBL European Bioinformatics Institute

110

Clinical Benefits of CYP2C19 Genotype-Guided Therapy of Antiplatelets against Standard Care in Stroke Patients: Meta-Analysis

Dr Mohitosh Biswas

University of Rajshahi

111

Lipidomic signatures of insulin resistance and metabolic flexibility in Asian subjects identified from hyperinsulinemic-euglycemic clamp studies

Dr Sartaj Mir

National University of Singapore

113

Advancing Personalized Medicine and Public Health: The Role and Impact of Qatar Biobank

Dr Marwa Eldeeb

Qatar Biobank

114

A 15-year Pharmacogenomics Tests in a Thai Pharmacogenomic and Personalized Medicine Center

Maliheh Ershadian

Mahidol University

115

Analysis of 100,000 Whole Genomes Reveals Genetic Basis of Pregnancy Phenotypes and Complications in Chinese Population

Dr Zhu Huanhuan

BGI Research

116

Unlocking Medical Insights through the Power of Taiwan Biobank Whole Genome Data

Dr Jacob Hsu Shujui

National Taiwan University

117

Familial coaggregation and shared genetic loading of psychiatric and gastrointestinal disorders

Dr Pan Yi-Jiun

School of Medicine, College of Medicine, China Medical University, Taichung, Taiwan

118

Incorporating polygenic liability and family history for predicting psychiatric diseases in the Taiwan biobank

Dr Wang Shi-Heng

National Center for Geriatrics and Welfare Research, National Health Research Institutes, Miaoli, Taiwan

119

Gene therapy for Spinal Muscular Atrophy with Onasemnogene Abeparvovec: real-world experience, challenges and ethical concern in Malaysia

Dr Tae Sok Kun

University Malaya

120

Bridging Gaps in Genomic Research: Insights from Diverse Indonesian Populations

Dr Pradiptajati Kusuma

Mochtar Riady Institute for Nanotechnology

121

CREATION OF THE PHILIPPINE LIST OF RARE DISEASES USING A SCORING SYSTEM

Dr Ebner Bon Maceda

Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila

122

XY Leap Clinical Decision Support Software delivers DNA-guided Individualized Medicine 3.0 therapeutics at Point-of-Care

Dr Andrew Winnington

Precision Medicine International Limited

124

Pharmacogenomics at Scale: Database Construction and Variation Analysis of 257 Pharmacogenes from a Chinese Newborn Cohort with 6,442 Individuals

Dr Jian Min

BGI Research

125

Pharmacogenetic Variability of UGT2B7, CYP3A4, CYP3A5 and CYP2B6 genes in an African-American Sickle Cell Disease Patient Cohort

Dr Cheedy Jaja

University of South Florida

126

Genetic Counseling for Sickle Cell Hemoglobinopathies in Sub-Saharan Africa: A Nursing Champion Implementation Science Study Protocol

Dr Cheedy Jaja

University of South Florida

127

Large-scale protein-disease risk association analysis in the UK Biobank: Introducing an extensive and freely available research resource in Olink® Insight

Dr Renu Balyan

Olink Proteomics

128

Genetic Variants on Genes Related to Endomembrane System are Associated with Longevity

Dr Li Yan

BGI Research