Monday, 9th March
GENEMAPPERS 2026
Days
Monday, 9th March
Tuesday, 10th March
Wednesday, 11th March
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Speakers
Registration open
10:00AM - 11:00AM
Monday, 9th March
Lunch
11:30AM - 12:00PM
Monday, 9th March
Welcome to Country | Conference Welcome
12:00PM - 12:30PM
Monday, 9th March
Functional and Applied Genomics
12:30PM - 2:00PM
Monday, 9th March
Chairs: Davis McCarthy & Irene Gallego Romero
Data-driven insights into variant-to-function mechanisms in human traits and diseases
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Tuuli Lappalainen
Genetic regulation of isoform expression at single-cell resolution using long-read sequencing
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Therese Johansson
Investigating the mechanisms of action of SSRIs using gene expression perturbation data
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Zoe Hunter
Single-cell genetics identifies cell type-specific causal associations between complex traits and diseases
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Albert Henry
Afternoon Tea Break
2:00PM - 2:30PM
Monday, 9th March
Genomics of Diverse and Indigenous Populations
2:30PM - 4:00PM
Monday, 9th March
Chairs: Jimmy Breen & Sonia Shah
Not provided at the time of publishing
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Alexander Brown
Ensuring Glaucoma Polygenic Risk Scores Work for Everyone: Calibration Across Seven Underrepresented Populations
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Stuart MacGregor
Ancestry frameworks for equitable genomic medicine resources: lessons from the OurDNA program
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Joshua M Schmidt
An epigenome-wide association study of GDF15 in a multi-ethnic acute coronary syndromes cohort
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Samuel FP Gibbs
Characterising the lack of SNP instrument portability as a weak instrument problem in cross-ancestry causal inference: Empirical and simulation-based evaluations
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Jue-Sheng Ong
Lightning Talks
4:00PM - 4:30PM
Monday, 9th March
Chairs: Ingrid Tarr & Brittany Mitchell
Genome-wide association study of corneal dystrophy uncovers novel risk loci and enables improved polygenic prediction of Fuchs endothelial corneal dystrophy
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Benyapa Insawang
Unravelling the mechanisms of clozapine-Induced neutropenia in treatment-resistant schizophrenia using cellular genomics
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Yuanhao Yang
Genetically predicted ketone bodies modify risk in severe childhood epilepsies
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Khang N Le
Biological and environmental variables demonstrate variable impact on genetic regulation across cell types
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Gabe D O'Reilly
TenK10K multiome project: Genetic regulation of cell type–specific chromatin accessibility shapes immune function and disease risk
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Angli Xue
Genomic Repeat inference from Depth (GRiD): High-Performance VNTR Length Estimation Improves Ancestry-Specific Prediction of Lp(a)
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Zachary Caterer
Establishment of the genetic ancestral diversity of single-cell atlases reveals heterogenous variation in cellular profiles
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Drew Neavin
Genetic predisposition for inflammatory bowel disease predicts immune checkpoint inhibitors–induced colitis in patients with melanoma
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Hadis Ghajari
Uncovering germline genetic determinants of polyp-to-colorectal cancer progression
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Rawaa Eltayib
Patch clamp data improves variant classification and penetrance stratification in
SCN5A
-Brugada Syndrome
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Joanne Ma
Machine learning–driven discovery of synergistic protein interactions identifies ATL3 as a putative biomarker for cancer drug response
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Priya Ramarao-Milne
Experimental signatures-guided framework for subcohort discovery in Biobank data
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Beilei Bian
SAVViDB and SpliceChat enhance splice-altering variant prediction and interpretation
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Kerry Zhao
Poster Session & Welcome Function
5:00PM - 7:00PM
Monday, 9th March
Unravelling the Molecular Landscape of Multiple Sclerosis Through Integrated Multi-Omics
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Yuan Zhou
Leveraging statistical genomics to explore the relationship of LDL-C with incidence of atrial fibrillation and heart failure
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Jiayue-Clara Jiang
Timing is everything: structural variant-driven SOX3 dysregulation in X-linked Charcot Marie Tooth Neuropathy
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Marina L. Kennerson
New genome-wide data for >7,400 Australians integrated with large-scale longitudinal health, socioeconomic, behaviour and linked medical data within the 45 and Up Study
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Hamzeh Mesrian Tanha
A Genetic Atlas of Relationships Between Circulating Metabolites and Liability to Psychiatric Conditions
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Dylan J Kiltschewskij
Elucidating public preferences and estimated willingness-to-pay for population-wide cancer risk assessment using polygenic risk scores (PGS) and PGS-informed risk-based cancer screening
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Julia Steinberg
Investigating the potential causal relationship between parity and long-term maternal cardiometabolic health outcomes
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Caroline Brito Nunes
Establishing a functional genomics assay to assess clinical variants in
CACNA1A
-related disorders
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Chek-Ying Tan
Transdiagnostic impact of adversity on the orbitofrontal cortex in psychiatric disorders: a spatial and single-nucleus multi-omics approach
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Tamim Ahsan
Revealing the role of circRNA in pulmonary hypertension
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Benjamin L Atchison
Comparative analysis of mitochondrial DNA variant calling tools
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Longfei Wang
GWAS meta-analysis provides new insights into uveal melanoma risk
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Huanwei Wang
Evidence of solar radiation-driven selection in multiple sclerosis risk variants
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Chaw Thwe
The influence of CYP2C19 and CYP2D6 polymorphisms on amitriptyline response in chronic pain a retrospective study from the Australian Genetics of Depression Study
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Bade Uckac
Advance the automation of identifying keratinocyte cancers through the application of large language models
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Marloes Helder
Genetic aetiologies associated with stuttering: A systematic review
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Tahlia Thomas
Genetic susceptibility and causes of early onset breast cancer
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Shuhan Peng
ClinGen Glaucoma Variant Curation Expert Panel guidelines continue to improve classification of
MYOC
variants
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Patricia Graham
Unravelling the genetic basis of stuttering: results and insights from a GWAS meta-analysis
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Vicki E Jackson
Genetic Links Between Cortical Brain Morphometry and Suicide Ideation and Suicide Attempt Risk in Children and Adults
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Zuriel Ceja
Testing the performance of polygenic scores for multiple traits to explain cerebral palsy risk in two independent cohorts
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Jodi T Thomas
ASIC1 exploration using human genetics
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Ewan Simpson
Polygenic risk score identifies disease burden for dilated cardiomyopathy in absence of monogenic cause
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Utpala Nanda Chowdhury
Evaluating functional assay data and its value in the curation of
CYP1B1
variants
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Johanna Hadler
Investigating the effects of adverse intrauterine environments on offspring outcomes of anxiety, depression, and neurodevelopmental disorders using Mendelian randomization
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Eva Chang
A novel cell-type-based polygenic score method
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Ruolan Zhao
Comprehensive GWAS meta-analysis expands the genetic landscape of essential tremor with 47 novel risk loci
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Natalia Ogonowski
Sex differences in the genetic and causal relationships between depression smoking and alcohol use the role of socioeconomic status
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Jihua Hu
Emerging insights from the first Indian GWAS on women with endometriosis
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Sandhya Anand
Investigating the common polygenic risk contribution to seizure susceptibility in brain malformations of cortical development
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Rebekah Harris
Using Mendelian randomization to examine evidence for the adverse transgenerational effect of grandparental smoking and alcohol consumption on the birthweight of grandchildren in the Norwegian HUNT Study
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Gunn-Helen Moen
Association between CHIP-status and epigenetic markers of aging with time
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Robert L O'Reilly
Copy-number variation: a source of missing heritability for heart failure?
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Anna P Pilbrow
Identifying miRNA eQTLs in Retinal Pigment Epithelial (RPE) cells from Age Related Macular Degeneration (AMD) patients
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Carolyn A de Graaf
The South Asian Genes and Health in Australia (SAGHA) Study: Building an Inclusive Genomic Resource for Precision Health
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Lauren F Barker
Application of variant curation expert panel specifications resolves uncertainty in BRCA1 and BRCA2 variant classification, and informs development of guidelines for atypical penetrance variants
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Johanna S Hadler
Genetic insights into white matter hyperintensities
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Marnie L Petrucci
Transcriptome-wide association study and fine-mapping prioritise risk genes for dyslexia
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Danielle M Adams
Can polygenic risk scores allow risk-stratified screening for melanoma?
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Matthew H Law
Partitioning adiposity-mediated and independent genetic risk reveals translational pathways for endometrial cancer
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Kelsie Bouttle
ImmunoXcan: a novel method to identify T-cell receptor clonotypes mediating HLA associations with complex traits
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Aaron Meyers
Dissecting depression: symptom-level genome-wide meta-analysis reveals pervasive genetic heterogeneity
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Tingyan Yang
Converging evidence of positive selection at height-associated loci in Europe
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Valentin Hivert
SLC7A6OS
founder variant is a rare cause of autosomal recessive progressive myoclonus epilepsy dated to 1,100 years ago
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Bronwyn E Grinton
Investigating the genomic signatures of natural selection to decode the evolution of multiple sclerosis risk
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Payel Mukherjee
Single-cell genetics identifies multi-omics signatures for the early detection of cancer therapy resistance
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Jianan Fan
Genomic data linkage identifies candidate genetic factors associated with congenital heart disease surgery outcomes
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Emma Rath
The relationship between migraine and human gut microbiome
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Elham Zohrehvand
Trends and common practices for causal inference studies in East Asian populations: do we observe the credibility crisis?
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Amanda Wei-Yin Lim
Polygenic Basis of Diurnal Temperature Rhythms Show Shared Genetic Architecture with Cardiometabolic and Sleep-Related Disorders
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Ooi-Ting Kee
A comprehensive trans-ancestry genome wide prediction of colorectal cancer risk provides insights to streamline practice screening guidelines.
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Mathias Seviiri
Refining candidate breast cancer risk genes through functional genomic mapping of primary mammary epithelial cells
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Jonathan Beesley
Multi-Ancestry, Multi-Trait Polygenic Risk Scores for Myopia: Improved Accuracy and Clinical Potential
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Stuart MacGregor
Rare variant burden testing reveals new candidate genes for congenital heart disease
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Yunkai Gao
Offspring genotype by proxy Mendelian randomization - Investigating potential causal effects of offspring perinatal traits on maternal health
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Alesha Hatton
Transposable elements as emerging biomarkers for cardiovascular disease.
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Dona Nelanka Colombage
Investigating mitochondrial encoded gene variants in migraine
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Heidi G Sutherland
Epigenome-wide analysis of metabolic syndrome and its components in two older Australian cohorts
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Karen A Mather
Mendelian randomisation reveals inconsistent causal inference between lipid and sleep traits
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Shannon Ormond
From Variants to Cell Types: CLEAR Mapping of Breast Cancer Genetic Risk
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Lefei Wang
Genetic dissection of polygenic risk scores for cardiovascular disease following hypertensive disorders of pregnancy
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Gayathry Krishnamurthy
Harnessing shared genetic architecture of gynecological disorders identifies 44 genetic loci robustly associated with polyps of the female genital tract
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Nathan Ingold
Assessing the genetic architecture of urinary metabolite concentrations using sbayesR
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Harry McIntosh
Investigating pleiotropy between externalizing behaviour and substance use using genomic network analysis
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Briar Wormington
Ancestral and environmental diversity shape the immune landscape in Indonesia
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Irene Gallego Romero
Estimating Genetic Correlation and Causation Between Chronic Respiratory Disorders and Metabolites and Brain Features to Prioritise Clinically Actionable Targets
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Tess Geraghty
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