Monday, 19th August GENEMAPPERS 2024

• Dynamic genetic structure & complex trait variation: case of Mexico and the world - Mashaal Sohail
• Proteomic landscapes of drug susceptibility in cancer  - Priya Ramarao-Milne
• Systematic functional characterisation of CDH1 variants - Sefi Rosenbluh
• Investigating causal effects of blood circulating proteins on Parkinson’s disease risk in Asians and Europeans - Amanda Wei-Yin Lim

• E kore e hekeheke, he kākano Rangatira: Increasing te ao Māori involvement in medical genomics research - Phillip Wilcox
• Population simulation to optimise study designs and estimate polygenic disease risk/resilience in aotearoa māori populations - Alastair Lamont
• Towards achieving culturally informed participant safety in a genomic study of coronary artery disease - Pritika Narayan
• Development of in-depth analyses for Māori health in cancer and coronary artery disease  - Helena Abolins-Thompson

• Integrated transcriptomic and genomic analysis to investigate an axonal form of Charcot-Marie-Tooth disease - Dora Yasar
• Context-Adjusted Proportion of Singletons (CAPS): A robust metric for assessing negative selection and benchmarking variant pathogenicity predictors - Eleni Giannoulatou
• Genetic discovery and diagnosis of ataxia in an Australian cerebellar ataxia cohort - Haloom Rafehi
• How to incorporate rare variants into PRS testing: the example of MYOC p.Gln368Ter variant in glaucoma - Ngoc-Quynh Le
• The HNRNPR gene is a potential candidate for a novel syndrome characterized by symptoms including paediatric cataract in an Australian family - Bibek Khatiwada
• Beyond GWAS and towards precision medicine equity for Indigenous populations. - Megan Leask
• Disentangling the relationship between intrauterine exposures and offspring growth in childhood - Kym-Mai Nguyen
• Sex differences in the genetics of depression - Jodi T Thomas

Lightning talks also presenting posters:

Abs#9 Dora Yasar
Abs#11 Eleni Giannoulatou
Abs#12 Haloom Rafehi
Abs#13 Ngoc-Quynh Le
Abs#14 Bibek Khatiwanda
Abs#15 Megan Leask
Abs#17 Kym-Mai Nguyen 
Abs#101 Jodi T Thomas

• Insilco pipeline to identify new indications by repurposing drug candidates using gene expression signature matching. - Gagandeep Singh
• Statistics of functional genomic features - Karla E Rojas Lopez
• Oxidative Stress induced changes in DNA methylation - Aaron Stevens
• Predicting functional genomic features - Daniela Schiavinato
• Epigenetic consequences of BCG-activated leukocytes on bladder cancer cells - Lucy C Picard
• Analysis of gene expression impacts of valproate on a human induced pluripotent stem cell line using long read RNA-Sequencing - Isabel Ayora
• GBA1 variants as modifiers of Parkinson’s disease (PD) in the New Zealand Parkinson’s environment and gene study (NZPEGS). - Oscar Graham
• Ancestry estimation using the UK Biobank as a reference dataset - Ngoc-Quynh Le
• The power of identity-by-descent analysis for disease-gene discovery in neurodegenerative diseases - Lyndal Henden
• CNDP2 is a potential modulator of heart failure outcomes - Moizle GC Ocariza
• Determining the pathogenicity of deep-intronic genetic variants - Joshua M Reid
• Leveraging genetic pleiotropy in drug target discovery for psychiatric disorders - Zachary Gerring
• Uncovering genetic effects on single-cell spatial pattern using multiple spatial metrics - Beilei Bian
• The impact of the APOE-ε4 allele on motor and cognitive symptom progression in Parkinson’s - Daniel Myall
• Using oxford nanopore technologies to study microbial cell-free DNA (mcfDNA) - Arielle Sulit
• Harnessing the Pharmagenic Enrichment to Optimise ASCVD Treatment: A Personalised Medicine Approach - Laura A Greco
• Altered DNA methylation patterns in colorectal cancer associated with immune cell oxidants - Olivia M Damiano
• Rethinking the way we incorporate polygenic risk scores in clinical mental health practice - Sarah Medland
• Unraveling the influence of gut microbiota on Parkinson's Disease: Insights from Mendelian Randomization analysis   - Natalia Soledad Ogonowski
• Insights into General and Sex-specific Genetic Effects on Nevus Count - Shanika Jayasinghe
• Deconstructing the process and strategy for genetic study recruitment among under-represented populations: a QIMRB Genetics of Diverse Ancestry case study - Jue-Sheng Ong
• Exploring the anti-depressive effects of statins using transcriptomic signature matching and Mendelian randomisation - Jiayue-Clara Jiang
• Utilising transcriptomic data to uncover drug mechanisms of action - Zoe Hunter
• Integration of genome wide assocation studies and functional genomic data to identiy pleiotropic genes that influence the pathogenesis of ADHD and PTSD - Yelena L Reznikova
• New Zealand's Contribution to an International Eating Disorders GWAS: Eating Disorders Genetics Initiative (EDGI)   - Hannah Kennedy-Smith
• Mediating the Impact of Maternal Body Mass Index on Birth Weight: The Role of Elevated Blood Counts - Christopher Flatley
• Network based polygenic score of cognitive functions beyond g in UK Biobank and ABCD datasets - Liliana G Ciobanu
• Integrating heterogeneous genomic data into a Bayesian framework to identify novel genes associated with brain disorders - Huiying Zhao
• Evaluating the utility of polygenic scores for supporting diagnosis of cardiac genetic diseases - Utpala Nanda Chowdhury
• Externalising behaviours as mediators in the causal relationship between cannabis use and schizophrenia - Briar Wormington
• Leveraging pleiotropy for the improved treatment of psychiatric disorders - Damian J Woodward
• Integrative analysis of transcriptomic signatures of the cerebral cortex in Alzheimer’s disease and COVID-19 infection - Xochitl Diaz
• Integrative multi-omics analysis improves the prediction accuracy of   COVID-19 susceptibility - Setegn Eshetie
• Integration is the foundation for discovery: Macquarie Neurodegenerative Diseases Biobank - Zoe N Zussa
• Investigating associations between early-life environmental factors and handedness using multivariable regression and proxy gene-by-environment Mendelian randomization - Daisy Crick
• Identification of putative causal relationships and biomarkers between stroke and 1,504 complex traits using large-scale genome-wide screening - Tania Islam
•  Oxford Nanopore adaptive sampling aka real-time sequence enrichment/depletion: our exploration of sample, wet-lab and bioinformatic considerations to optimise success.  - Leticia Castro
• CHST14 Identified as a Novel Endometrial Cancer Susceptibility Gene through Enhancer-Promoter Analysis of GWAS Data - Dylan Glubb
• Influence of common missense variants in chemosensory receptor genes on food preferences - Liang-Dar Hwang
• MM-BWAP: Macquarie university Motor neuron – Bioinformatics Whole genome Analysis Pipeline - Andrew N Smith
• Exploring health and disease trajectories from pregnancy through early childhood with the origins project. A collaborative research platform with centralised biobank-scale ‘omic analyses in the pipeline. - Courtney Kidd
• Understanding symptom heterogeneity of major depressive disorder through genetic network analysis - Tingyan Yang
• Allelic diversity of pharmacogenes CYP2D6 and CYP2C19 in Māori from Te Tairāwhiti, Aotearoa New Zealand - Te Whetu A Kerekere
• Uncovering the Causes of Monogenic Parkinson’s Disease Among Individuals from Underrepresented Backgrounds in Australia and Mexico - Victor Flores Ocampo
• Identifying novel vertebral development factors through UK Biobank driven genetic and body imaging analysis - Jiru Han
• Multi-region brain transcriptomics of motor neuron disease patients shows increased RNA alterations in “unaffected” cerebellum - Kelly L Williams
• Associations between DNA methylation and cigarette smoking in Pacific Peoples living in Aotearoa New Zealand - Sam FP Gibbs
• Genome wide association study meta-analysis finds novel loci associated with female genital polyps - Tracy O'Mara
• A genetic test for skin cancer  identifies ultra-high risk transplant patients suitable for early personalised chemoprevention. - Mathias Seviiri
• Detecting natural selection signatures in multiple sclerosis genetic variants using landscape genomics - Bennet McComish
• Investigating the Role of Medication and Inflammation in Frailty with Polygenic and Epigenetic Data - Jonny Flint