Sunday, 13th February 43rd Lorne Genome Conference 2022

Irene Gallego Romero

The conference acknowledges the support of:

Hilda Pickett

The conference acknowledges the support of:

• TBC - Irene Gallego Romero
• TBC - Hilda Pickett

The conference acknowledges the support of:

Daniel McArthur

The conference acknowledges the support of:

• TBC - Daniel MacArthur
• Breast cancer risk variants at 3p26 act by modulating proliferation and interferon response through BHLHE40 and a novel lncRNA named BRIAR. - Stacey Edwards
• CRISP-ChIP screen to identify mechanisms of chromatin regulation     - Omer Gilan

The conference acknowledges Millennium Science for sponsoring the MCR awards

Introduction to awards - James Miller, Millennium Science 

• Targeted single-cell RNA sequencing of transcription factors enhances the identification of cell types and trajectories - Michael B Clark
• Bi-allelic loss-of-function OBSCN variants predispose individuals to severe, recurrent rhabdomyolysis - Gina Ravenscroft

The conference acknowledges the support of:

• Using CRISPR screening to find convergent venom mechanisms of action and new venom antidotes - Tian Du
• An integrated transcriptional atlas of human dendritic cells - Zahra ZE Elahi
• A deep learning approach to single cell analysis - Tansel Ersavas
• Convolutional neural networks for genomic and transcriptomic data analysis - Tansel Ersavas
• L1 retrotransposon activity in healthy and diseased dopaminergic neurons - Maria Eugenia Ferreiro
• Massively parallel sequencing in high-risk hereditary prostate cancer families reveals rare DNA repair gene variants - Georgea R Foley
• Identification of a novel heterozygous DYSF variant in a large family with a dominantly inherited dysferlinopathy - Chiara L Folland
• Disruption of mitochondrial factor SDHA-2 affects sperm motility and male fertility - Natalya Frolows
• Sexually dimorphic requirement for FGFR2 expression in gonadal development - Emily Frost
• H3.3G34R mutation inhibits rDNA gene transcription and shows sensitivity to RNA Polymerase 1 inhibition - Andrew A.G Garvie
• A transcription-independent function for the chromatin remodeller BRG1 in DNA replication - Katherine A Giles
• Accurate expression quantification from nanopore direct RNA sequencing with NanoCount - Josie Gleeson
• Exploring the potential of CGATA motif methylation to regulate GATA1 binding in the β-globin locus - Sonia Goozee
• Ultra-long and targeted (epi)genetic profiling of a repeat-associated human disease - Quentin Gouil
• Chromosomal sex via epigenetic modification? - Xiuwen Zhang
• Exploring the effects of X chromosome gene expression in RA using single cell RNA sequencing - Lachlan G Gray
• A single-cell spatial immune atlas of the inflammatory response to traumatic spinal cord injury - Laura F Grice
• Detection of m6A and m5C RNA modifications at single-molecule resolution using Nanopore sequencing - Pablo Acera
• Somatic point mutations are enriched in long non-coding RNAs with possible regulatory function in breast cancer - Hamid Alinejad Rokny
• Epigenetic signatures of invertebrate CpG island-like sequences - Allegra Angeloni
• A Dictyostelium model for Alzheimer’s Disease and other tauopathies - Sarah J Annesley
• Investigating causal mechanisms underlying mitochondrial dysfunction in myalgic encephalomyelitis/chronic fatigue syndrome using dictyostelium discoideum as a model - Benjamin H Arnold
• Non-coding somatic drivers in metastases cSCC and associated statistical challenges - Bruce Ashford
• Exploring a potential genetic basis of gender identity - Blake Ashley
• Single-cell eQTL mapping uncovers the cellular context of interstitial lung disease-associated genetic variants - Christina B Azodi
• Structural variation in Indigenous Australians and diverse human populations - Renzo Balboa
• Predicting the cross-population portability of human expression quantitative trait loci (eQTLs) - Isobel Beasley
• NuRD reads DNA methylation to maintain HBG1/2 repression in haemoglobin switching - Henry W Bell
• Programmable macrophages understanding the role of nrg1 and macrophage plasticity through synthetic biology - Miguel A Berrocal-Rubio
• The role of g-quadruplexes in RNA-protein interactions - Uditi Bhatt
• Understanding the mechanistic basis of neurodevelopmental disorders caused by defective THOC2/TREX mRNA export using a patient-inspired Thoc2 mouse model - Rudrarup Bhattacharjee
• Spatially resolved transcriptomics in immersive environments - Denis Bienroth
• LINE-1 retrotransposon modulation in mammalian cells - Juan Manuel Botto
• HIVE scRNAseq: The complete solution from single cells to libraries for RNAseq, with integrated sample storage - Matthew Brockman
• TOP MOVIE: a tandem orthogonal parsimonious machine learning optimized workflow for rapid Mendelian variant interpretation and genomic diagnosis - Leslie Burnett
• The L1-Cre Reporter System: Circumventing Engineered LINE-1 Retrotransposon Silencing - Alexander L. Carleton
• Activation of stably silenced genes by recruitment of a synthetic demethylating module - Wing Fuk Chan
• Benchmarking methods for the identification of spatially variable genes in spatial transcriptomics data sets - Natalie Charitakis
• A chromosome-level reference genome for Telopea speciosissima (New South Wales waratah) provides insight into waratah evolution - Stephanie H Chen
• Sincast: a computational framework to predict cell identities in single cell transcriptomes using bulk atlases as references - Jarny Choi
• LINE-1 activity in primordial germ cell specification - Renee Chu
• SLC35A2 and brain mosaicism in infantile spasms with focal brain malformations - Matthew Coleman
• ALTEN: a High-fidelity Primary Tissue-engineering Platform to Assess Cellular Responses Ex Vivo - Yolanda Colino Sanguino
• Whole genome nanopore DNA analysis shows that chronic corticosterone supplementation results in altered sperm DNA methylation. - Coralina Collar Fernandez
• Identification of novel isoforms in schizophrenia and depression risk genes in human brain - Ricardo De Paoli-Iseppi
• The VEGAS platform is not suitable for mammalian directed evolution - Christopher E Denes
• Single-cell transcriptomics reveals the cellular identity of a novel bipotent progenitor population crucial for murine neural tube closure - Zihao Deng
• Three steps towards the splicing code: GWAS of individual splice sites in Arabidopsis - Craig I Dent
• DNA Methylation of the ST3GAL3 Gene in Attention-Deficit/Hyperactivity Disorder (ADHD) - Lillian M Dipnall
• Species or Lineages within Species: interrogating genomic datasets for the identity of candidate species within Bassiana duperreyi - Duminda Dissanayake
• Unravelling the protein-coding potential of non-coding regions in the human genome - Hitesh Kore
• Autoimmunity and health: correlating illness, medication and diagnostic journeys of chronically ill patients in Australia. - Anna L Kretzschmar
• PeakCNV: an artificial intelligence based tool for genome-wide copy number variation association study - Mahdieh Labani
• Novel immediate direct targets of EPO signaling in erythropoiesis - Charlene Lam
• Skeletal muscle methylome and transcriptome integration reveals profound sex differences related to muscle function and substrate metabolism   - Shanie Landen
• Millimetre waves modulate the transcriptome in human fibroblasts - Nicholas B Lawler
• The RNA editing enzyme ADAR1 in health and diseases - Zhen Liang
• SUMOylation of DNMT1 regulates response to catalytic inhibition of DNMT1 in cancer - Brian Liddicoat
• A cellular model for the study of rDNA class switching - Anran Lin
• The lack of NSUN2 methyltransferase enzyme affects the role of DDX3X and UPF1 RBPs - Marco Guarnacci
• Assembling high-quality sea snake genomes to investigate the genetic basis of aquatic adaptation - Jillian M Hammond
• Y chromosome condensation by a novel PML-nuclear body - Vincent Harley
• Nuclear F-actin and the DNA damage response regulate telomerase recruitment - Ashley Harman
• CRISPR/Cas 9 genome editing for rare genetic disease diagnosis in paediatric patients - Saraya Harrison
• EZH1-PRC2 Functions Independently of Catalytic Activity in Quiescent Cells - Evan Healy
• Defining cellular pathways that generate and sense endogenous immunogenic RNA - Jacki Heraud-Farlow
• Locus-specific functional conservation of chromatin structure across vertebrate evolution - Benjamín Hernández Rodríguez
• The adult Drosophila salivary gland exhibits an unusual mode of cell division - Gary R Hime
• Joint somatic variant calling workflows to improve performance on multiple clinical samples from the same patient - Sebastian Hollizeck
• PreSTEge: An ensembl machine model to Predict Stochastic Translation Efficiency genome-wide - Attila Horvath
• Telomerase Regulation: Mechanisms and Therapeutic Strategies - Anton Hsu
• Composite selection signal analysis of lymphoma risk in Mastiff-like breeds - Victor Wei Tse Hsu
• Unravelling the role of SMCHD1’s ATPase activity and hinge domain nucleic acid interaction by combining genetics and advanced imaging - Ruifeng Hu
• De novo reprogramming of CRISPR-Cas13b to silence tumour and viral RNAs    - Wenxin Hu
• Investigating the closed-loop model of mRNA translation transcriptome-wide   - Yu-Ting Hung
• Profiling genetically driven alternative splicing across the Indonesian Archipelago - Neke Ibeh
• Multi OMICs integration of exercise responses in human skeletal muscle - Macsue Jacques
• Single-molecule simultaneous profiling of DNA methylation and DNA-protein interactions with Nanopore-DamID. - Yohaann Mohamed Asif Jafrani
• Intestinal cell census reveals readapted developmental programs during Crohn’s disease - Kylie R James
• Genome-wide discovery of translation control mechanisms - Yoshika Janapala
• Rewiring transcription in tumours by targeting transposable elements   - Natasha Jansz
• Mendelian randomization identifies a possible causal effect of steroid hormones on colorectal cancer risk - Dulari K. Jayarathna
• Long reads vs Short reads: Identification and quantification of known and novel isoforms implicated in neurological disorders.    - Shweta S. Joshi