Monday, 9th March — ASN Events

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Speakers

10:00AM - 11:00AM

Monday, 9th March

11:30AM - 12:00PM

Monday, 9th March

12:00PM - 12:30PM

Monday, 9th March

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 - Tuuli Lappalainen
Genetic regulation of isoform expression at single-cell resolution using long-read sequencing - Therese Johansson
Investigating the mechanisms of action of SSRIs using gene expression perturbation data - Zoe Hunter
Single-cell genetics identifies cell type-specific causal associations between complex traits and diseases - Albert Henry

2:00PM - 2:30PM

Monday, 9th March

2:30PM - 4:00PM

Monday, 9th March

Chairs: Jimmy Breen & Sonia Shah

Not provided at the time of publishing - Alexander Brown
Ensuring Glaucoma Polygenic Risk Scores Work for Everyone: Calibration Across Seven Underrepresented Populations - Stuart MacGregor
Ancestry frameworks for equitable genomic medicine resources: lessons from the OurDNA program - Joshua M Schmidt
An epigenome-wide association study of GDF15 in a multi-ethnic acute coronary syndromes cohort - 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 - Jue-Sheng Ong

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 - Benyapa Insawang
Unravelling the mechanisms of clozapine-Induced neutropenia in treatment-resistant schizophrenia using cellular genomics - Yuanhao Yang
Genetically predicted ketone bodies modify risk in severe childhood epilepsies - Khang N Le
Biological and environmental variables demonstrate variable impact on genetic regulation across cell types - Gabe D O'Reilly
TenK10K multiome project: Genetic regulation of cell type–specific chromatin accessibility shapes immune function and disease risk - Angli Xue
Genomic Repeat inference from Depth (GRiD): High-Performance VNTR Length Estimation Improves Ancestry-Specific Prediction of Lp(a) - Zachary Caterer
Establishment of the genetic ancestral diversity of single-cell atlases reveals heterogenous variation in cellular profiles - Drew Neavin
Genetic predisposition for inflammatory bowel disease predicts immune checkpoint inhibitors–induced colitis in patients with melanoma - Hadis Ghajari
Uncovering germline genetic determinants of polyp-to-colorectal cancer progression - Rawaa Eltayib
Patch clamp data improves variant classification and penetrance stratification in SCN5A-Brugada Syndrome - Joanne Ma
Machine learning–driven discovery of synergistic protein interactions identifies ATL3 as a putative biomarker for cancer drug response - Priya Ramarao-Milne
Experimental signatures-guided framework for subcohort discovery in Biobank data - Beilei Bian
SAVViDB and SpliceChat enhance splice-altering variant prediction and interpretation - Kerry Zhao

5:00PM - 7:00PM

Monday, 9th March

Unravelling the Molecular Landscape of Multiple Sclerosis Through Integrated Multi-Omics - Yuan Zhou
Leveraging statistical genomics to explore the relationship of LDL-C with incidence of atrial fibrillation and heart failure - Jiayue-Clara Jiang
Timing is everything: structural variant-driven SOX3 dysregulation in X-linked Charcot Marie Tooth Neuropathy - 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 - Hamzeh Mesrian Tanha
A Genetic Atlas of Relationships Between Circulating Metabolites and Liability to Psychiatric Conditions - 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 - Julia Steinberg
Investigating the potential causal relationship between parity and long-term maternal cardiometabolic health outcomes - Caroline Brito Nunes
Establishing a functional genomics assay to assess clinical variants in CACNA1A-related disorders - Chek-Ying Tan
Transdiagnostic impact of adversity on the orbitofrontal cortex in psychiatric disorders: a spatial and single-nucleus multi-omics approach - Tamim Ahsan
Revealing the role of circRNA in pulmonary hypertension - Benjamin L Atchison
Comparative analysis of mitochondrial DNA variant calling tools - Longfei Wang
GWAS meta-analysis provides new insights into uveal melanoma risk - Huanwei Wang
Evidence of solar radiation-driven selection in multiple sclerosis risk variants - 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 - Bade Uckac
Advance the automation of identifying keratinocyte cancers through the application of large language models - Marloes Helder
Genetic aetiologies associated with stuttering: A systematic review - Tahlia Thomas
Genetic susceptibility and causes of early onset breast cancer - Shuhan Peng
ClinGen Glaucoma Variant Curation Expert Panel guidelines continue to improve classification of MYOC variants - Patricia Graham
Unravelling the genetic basis of stuttering: results and insights from a GWAS meta-analysis - Vicki E Jackson
Genetic Links Between Cortical Brain Morphometry and Suicide Ideation and Suicide Attempt Risk in Children and Adults - Zuriel Ceja
Testing the performance of polygenic scores for multiple traits to explain cerebral palsy risk in two independent cohorts - Jodi T Thomas
ASIC1 exploration using human genetics - Ewan Simpson
Polygenic risk score identifies disease burden for dilated cardiomyopathy in absence of monogenic cause - Utpala Nanda Chowdhury
Evaluating functional assay data and its value in the curation of CYP1B1 variants - Johanna Hadler
Investigating the effects of adverse intrauterine environments on offspring outcomes of anxiety, depression, and neurodevelopmental disorders using Mendelian randomization - Eva Chang
A novel cell-type-based polygenic score method - Ruolan Zhao
Comprehensive GWAS meta-analysis expands the genetic landscape of essential tremor with 47 novel risk loci - Natalia Ogonowski
Sex differences in the genetic and causal relationships between depression smoking and alcohol use the role of socioeconomic status - Jihua Hu
Emerging insights from the first Indian GWAS on women with endometriosis - Sandhya Anand
Investigating the common polygenic risk contribution to seizure susceptibility in brain malformations of cortical development - 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 - Gunn-Helen Moen
Association between CHIP-status and epigenetic markers of aging with time - Robert L O'Reilly
Copy-number variation: a source of missing heritability for heart failure? - Anna P Pilbrow
Identifying miRNA eQTLs in Retinal Pigment Epithelial (RPE) cells from Age Related Macular Degeneration (AMD) patients - Carolyn A de Graaf
The South Asian Genes and Health in Australia (SAGHA) Study: Building an Inclusive Genomic Resource for Precision Health - 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 - Johanna S Hadler
Genetic insights into white matter hyperintensities - Marnie L Petrucci
Transcriptome-wide association study and fine-mapping prioritise risk genes for dyslexia - Danielle M Adams
Can polygenic risk scores allow risk-stratified screening for melanoma? - Matthew H Law
Partitioning adiposity-mediated and independent genetic risk reveals translational pathways for endometrial cancer - Kelsie Bouttle
ImmunoXcan: a novel method to identify T-cell receptor clonotypes mediating HLA associations with complex traits - Aaron Meyers
Dissecting depression: symptom-level genome-wide meta-analysis reveals pervasive genetic heterogeneity - Tingyan Yang
Converging evidence of positive selection at height-associated loci in Europe - Valentin Hivert
SLC7A6OS founder variant is a rare cause of autosomal recessive progressive myoclonus epilepsy dated to 1,100 years ago - Bronwyn E Grinton
Investigating the genomic signatures of natural selection to decode the evolution of multiple sclerosis risk - Payel Mukherjee
Single-cell genetics identifies multi-omics signatures for the early detection of cancer therapy resistance - Jianan Fan
Genomic data linkage identifies candidate genetic factors associated with congenital heart disease surgery outcomes - Emma Rath
The relationship between migraine and human gut microbiome - Elham Zohrehvand
Trends and common practices for causal inference studies in East Asian populations: do we observe the credibility crisis? - Amanda Wei-Yin Lim
Polygenic Basis of Diurnal Temperature Rhythms Show Shared Genetic Architecture with Cardiometabolic and Sleep-Related Disorders - Ooi-Ting Kee
A comprehensive trans-ancestry genome wide prediction of colorectal cancer risk provides insights to streamline practice screening guidelines. - Mathias Seviiri
Refining candidate breast cancer risk genes through functional genomic mapping of primary mammary epithelial cells - Jonathan Beesley
Multi-Ancestry, Multi-Trait Polygenic Risk Scores for Myopia: Improved Accuracy and Clinical Potential - Stuart MacGregor
Rare variant burden testing reveals new candidate genes for congenital heart disease - Yunkai Gao
Offspring genotype by proxy Mendelian randomization - Investigating potential causal effects of offspring perinatal traits on maternal health - Alesha Hatton
Transposable elements as emerging biomarkers for cardiovascular disease. - Dona Nelanka Colombage
Investigating mitochondrial encoded gene variants in migraine - Heidi G Sutherland
Epigenome-wide analysis of metabolic syndrome and its components in two older Australian cohorts - Karen A Mather
Mendelian randomisation reveals inconsistent causal inference between lipid and sleep traits - Shannon Ormond
From Variants to Cell Types: CLEAR Mapping of Breast Cancer Genetic Risk - Lefei Wang
Genetic dissection of polygenic risk scores for cardiovascular disease following hypertensive disorders of pregnancy - Gayathry Krishnamurthy
Harnessing shared genetic architecture of gynecological disorders identifies 44 genetic loci robustly associated with polyps of the female genital tract - Nathan Ingold
Assessing the genetic architecture of urinary metabolite concentrations using sbayesR - Harry McIntosh
Investigating pleiotropy between externalizing behaviour and substance use using genomic network analysis - Briar Wormington
Ancestral and environmental diversity shape the immune landscape in Indonesia - Irene Gallego Romero
Estimating Genetic Correlation and Causation Between Chronic Respiratory Disorders and Metabolites and Brain Features to Prioritise Clinically Actionable Targets - Tess Geraghty

Tuesday →

Monday, 9th March GENEMAPPERS 2026

Registration open

Lunch

Welcome to Country | Conference Welcome

Functional and Applied Genomics

Afternoon Tea Break

Genomics of Diverse and Indigenous Populations

Lightning Talks

Poster Session & Welcome Function