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Sunday 12th February 2017 Conference Welcome 2:00PM - 2:10PM Lecture Hall Opening Lecture 2:10PM - 3:00PM Lecture Hall Chair: Kathryn Burdon 2:10 PM Bruce Stillman The Origin Recognition Complex and Chromosome Duplication: Structure, Function and Human Genetics abs# 1 Afternoon Tea 3:00PM - 4:00PM Exhibition Hall Session 1: Developmental Biology and Gene Regulation 4:00PM - 6:30PM Lecture Hall Chair: Brian Morris 4:00 PM Jing-Dong "Jackie" Han Integrative Data Analysis for Development and Aging abs# 2 4:35 PM Melissa Little Directed differentiation to kidney organoids represents a reproducible and developmentally accurate model of human kidney development. abs# 3 5:00 PM Ozren Bogdanovic Embryonic DNA methylation remodelling in the chordate Branchiostoma lanceolatum abs# 4 5:25 PM Josef Penninger Haploid genetics for reproducible cell biology abs# 5 6:00 PM Eva Maria Novoa Pardo Translation-dependent remodeling of the mRNA structure landscape in early-stage vertebrate embryos abs# 6 6:03 PM Christian Pflueger To bind or not to bind – testing transcription factor’s methyl-cytosine tolerance abs# 8 6:06 PM Qiaoping Kevin Wang Funcitonal Validation of Human Obesity GWAS Candidates in vivo abs# 9 6:09 PM Samuel W Lukowski High-throughput single-cell sequencing of 18,787 human IPSCs identifies differentially primed subpopulations. abs# 10 6:12 PM Jian Yan Histone Methyltransferases and H3K4me1 Modulate Long-range Chromatin Interactions at Enhancers abs# 11 6:15 PM Kirsten R McEwen Decoding Molecular Mechanisms of Transcriptional Regulation abs# 12 Welcome BBQ 6:30PM - 8:30PM

Sunday 12th February 2017 - Lorne Genome · Sunday 12th February 2017 Conference ... discovery and validation in Mendelian disease trios ... breast cancer causal SNPs identified by

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Page 1: Sunday 12th February 2017 - Lorne Genome · Sunday 12th February 2017 Conference ... discovery and validation in Mendelian disease trios ... breast cancer causal SNPs identified by

Sunday 12th February 2017 Conference Welcome 2:00PM - 2:10PM Lecture Hall Opening Lecture 2:10PM - 3:00PM Lecture Hall Chair: Kathryn Burdon 2:10 PM Bruce Stillman

The Origin Recognition Complex and Chromosome Duplication: Structure, Function and Human Genetics abs# 1

Afternoon Tea 3:00PM - 4:00PM Exhibition Hall Session 1: Developmental Biology and Gene Regulation 4:00PM - 6:30PM Lecture Hall Chair: Brian Morris 4:00 PM Jing-Dong "Jackie" Han

Integrative Data Analysis for Development and Aging abs# 2 4:35 PM Melissa Little

Directed differentiation to kidney organoids represents a reproducible and developmentally accurate model of human kidney development. abs# 3

5:00 PM Ozren Bogdanovic Embryonic DNA methylation remodelling in the chordate Branchiostoma lanceolatum abs# 4

5:25 PM Josef Penninger Haploid genetics for reproducible cell biology abs# 5

6:00 PM Eva Maria Novoa Pardo Translation-dependent remodeling of the mRNA structure landscape in early-stage vertebrate embryos abs# 6

6:03 PM Christian Pflueger To bind or not to bind – testing transcription factor’s methyl-cytosine tolerance abs# 8

6:06 PM Qiaoping Kevin Wang Funcitonal Validation of Human Obesity GWAS Candidates in vivo abs# 9

6:09 PM Samuel W Lukowski High-throughput single-cell sequencing of 18,787 human IPSCs identifies differentially primed subpopulations. abs# 10

6:12 PM Jian Yan Histone Methyltransferases and H3K4me1 Modulate Long-range Chromatin Interactions at Enhancers abs# 11

6:15 PM Kirsten R McEwen Decoding Molecular Mechanisms of Transcriptional Regulation abs# 12

Welcome BBQ 6:30PM - 8:30PM

Page 2: Sunday 12th February 2017 - Lorne Genome · Sunday 12th February 2017 Conference ... discovery and validation in Mendelian disease trios ... breast cancer causal SNPs identified by

Poster Session 1 8:30PM - 11:00PM Exhibition Hall Morana Vitezic The promoter landscape of inflammatory bowel disease (IBD). abs# 100 Herah Hansji Long noncoding RNA ZFAS1 in ribosome regulation: a riddle wrapped in a mystery inside an enigma abs# 101 Debina Ms Sarkar Complexity surrounding multiple isoforms of ANRIL in melanoma abs# 102 Vincent R Harley In fetal testes SOX9 governs transcription and male-specific RNA splicing of target genes via a Sertoli cell genomic signature abs# 103 Philippe Collas 3D human genome modeling reveals impacts of lamin A mutations on genome architecture abs# 104 Andrew Keniry Identifying and characterising novel epigenetic modifiers using X inactivation as a model system abs# 105 Debina Ms Sarkar Complexity surrounding multiple isoforms of ANRIL in melanoma abs# 106 Jincheol Park Impact of data resolution on three-dimensional structure inference methods abs# 107 shadi GHALAMI Prevalence of CYP2D6 Gene and Prostate Cancer Risk in People of Shiraz abs# 109 Hsiao P J Voon A Histone Point Mutation Alters the Chromatin Landscape by Inhibiting a Histone K9/K36 Demethylase abs# 110 Harriet Dashnow Detecting pathogenic STR expansions in next-gen sequencing data abs# 111 Daniel W Thomson The Recycled Human Genome : Ubiquitous neufunctionalisation of pseudogenes via LINE1 mediated intron generation abs# 112 Timothy M. Johanson Lineage-restricted transcription factors regulate genome organisation abs# 113 Namitha Mohandas DNA methylation analysis of neurodevelopmental disorders using disease-discordant monozygotic twins abs# 114 James Miller Targeted sequencing using advanced molecular inversion probes (MIPs) for discovery and validation in Mendelian disease trios abs# 115 Coralie M Reich Polyceraty in Damara Sheep abs# 116 Ira Deveson Mirror images of common, challenging and clinically relevant genetic variants provide spike-in controls for genome sequencing abs# 117 Thomas Preiss The Cardiomyocyte RNA-Binding Proteome: Links to Intermediary Metabolism and Heart Disease abs# 118 Thomas Preiss In planta determination of the mRNA-binding proteome of Arabidopsis etiolated seedlings abs# 119 John Manion A functional genomic approach to identify new synaptic genes and drug targets to prevent neurodegeneration. abs# 120

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Helen McRae Chromatin-associated protein regulates haematopoietic stem and progenitor cell activity abs# 122 Zoe L Grant Investigating the role of histone acetylation in angiogenesis abs# 123 Chen Davidovich Short repeats of consecutive guanines provide transcript-specific regulation of the Polycomb repressive complex 2 (PRC2) abs# 124 Heather J Lee Dynamic and heterogeneous DNA methylation in pluripotent cells abs# 125 Richard J Edwards PacBio sequencing, de novo assembly and haplotype phasing of diploid yeast strains abs# 126 Åsa Pérez-Bercoff Investigating the evolution of new biochemical pathways in baker’s yeast Saccharomyces cerevisiae abs# 127 Nazanin Karimnia ASSET (antisense Set7 transcript) is regulated by oxidant redox signaling abs# 128 Natasha Zamudio Chromatin modification in somatic cell reprogramming abs# 129 Anna S Trigos An in silico approach to identify novel treatment options for patients with drug-resistant tuberculosis abs# 130 Alexander J Knights Browning of adipose tissue in mice lacking Krüppel-like factor 3 (KLF3) abs# 131 Elizabeth S Stout The search for disease severity modifiers in patients suffering from blood disorders abs# 132 Tiffany Cole Conserved Transcriptional Architecture of Pain abs# 133 Jinfen J Yik Investigating the roles of KLF, SOX6 and CtBP in regulating globin gene expression abs# 134 Beeke Wienert Introducing a beneficial gain of function mutation suggests a potential gene therapeutic approach for treating β-haemoglobinopathies abs# 135 Dulce B Vargas Landin Epigenomics of Rett Syndrome: the other layer of the story abs# 136 Bong-Seok Jo Alterations of DNA methylation and gene expression detected in the human dilated cardiomyopathy patient samples abs# 137 Bong-Seok Jo Significant numbers of disease-associated SNPs are positioned in introns implicating their functional relevance abs# 138 Tran Quynh Nhu Nguyen Ellis-van Creveld syndrome: Mutation in EFCAB7 changes the EFCAB7-EVC2 interaction in Hedgehog signaling regulation. abs# 139 Sylvia Young Towards Personalized Medicine: Using Bayesian Methods in Genome-enabled Prediction of Complex Human Diseases abs# 140 Jae-Woong Min Analysis of WGS data derived from five paired primary and relapsed acute myeloid leukemia patients abs# 141 Wooi Fang (Catheryn) Lim Assessing the role of functional domains of a family of zinc finger transcription factors in in vivo target specificity abs# 143

Page 4: Sunday 12th February 2017 - Lorne Genome · Sunday 12th February 2017 Conference ... discovery and validation in Mendelian disease trios ... breast cancer causal SNPs identified by

Sophia Ying Yii Mah Investigating the KAT6A/B histone lysine acetyltransferase (KAT) complex abs# 144 Luke Hickey Structural Variant Detection in Individuals and Populations with the PacBio Sequel System abs# 146 Leonie M Quinn The essential function of FBP/KSRP proteins in development: Drosophila Psi interacts with Mediator to modulate MYC transcription and tissue growth abs# 147 Lu Yang DNA methylation and transcription factor binding abs# 148 Thomas Quinn propr: A Software Package for Identifying Proportionally Abundant Features using Compositional Data Analysis abs# 150 Paul Marshall ADAR1 dual function as RNA editing and potential DNA binding enzyme in the activity-dependent regulation of adaptive behaviour in the mouse abs# 151 Akira Gokoolparsadh The role of neuronal specific splice factor, RBFOX1, in regulating circular RNA formation abs# 152 Mark Ziemann The ENCODE Gene Set Hub abs# 153 Lingxi JIANG Characterization of the genes specifically expressed in liver progenitor cells of in vitro hepatic differentiation model abs# 154 Maria I Bergamasco The histone acetyltransferase KAT6B is essential for cortex development and the maintenance of adult neural stem cells abs# 156 Rhys Allan Examining the conservation of chromatin domains between cell lineages of the same individual abs# 157 Brittany Croft A mutation in FGF9 identified in 46,XY Sex Reversal abs# 158 Hannah Loke Dysregulation of SRY in the male brain: a genetic basis for sex bias in neurological disorders? abs# 159 Alessandro Bonetti Identification and characterization of ncRNAs associated with chromatin in pluripotency abs# 160 Sureshkumar Balasubramanian Alternative splicing coupled with nonsense mediated mRNA decay contributes to thermal induction of floral transition. abs# 162 Gad Abraham Genomic prediction of coronary heart disease abs# 163 Akanksha Srivastava Home: a histogram based machine learning approach to identify differentially methylated regions in a genome abs# 164 Aleisha Symon Identifying novel genes from integrated SOX9 knockout RNAseq/SOX9 ChIPseq datasets abs# 165 Matt A Field Reducing the search space for causal genetic variants in sequenced pedigrees with VASP abs# 166 Brian S Gloss High temporal resolution of gene expression dynamics in developing mouse embryonic stem cells abs# 167

Page 5: Sunday 12th February 2017 - Lorne Genome · Sunday 12th February 2017 Conference ... discovery and validation in Mendelian disease trios ... breast cancer causal SNPs identified by

Rachael Turner The mechanisms of alternative 3'UTRs in the control of gene expression abs# 168 Scott C Ritchie NetRep: a scalable permutation approach for assessing replication and preservation of network modules in large datasets abs# 169 Kelan Chen Mechanistic Insight into the Epigenetic Regulator SMCHD1 and its Implication in Diseases abs# 170 Riti Roy Global down-regulation of cellular communication components is a master hallmark of cancer. abs# 171 Linna Guo Deciphering novel transcriptional roles for Argonaute proteins in Drosophila development abs# 172 Cheryl Shoubridge IQSEC2; when two Xs are not better than one. abs# 173 Alice Chin Identifying synthetic lethal drugs for cohesin mutant AML abs# 174 Hannah R Nicholas Homeodomain-interacting protein kinase 1 (HPK-1) regulates stress responses and aging in C. elegans abs# 175 Alexander P Sobinoff BLM and SLX4 play opposing roles in break-induced replication at human telomeres abs# 176 Rachel Woodhouse Investigating the Role of SET-32 and SET-25 in Transgenerational Epigenetic Inheritance in C. elegans abs# 177 Minh Duc Cao Scaffolding and completing genome assemblies in real-time with nanopore sequencing abs# 178 Haloom Rafehi HDAC inhibitor mediated promoter histone deacetylation differs in healthy versus diabetic individuals. abs# 179 Sofia Khan Identifying nonlinear RNAs from single-molecule CAGEscan data abs# 181 Arjun S Chahal From Servant to Master: the Ribosome’s instructive role in cell fate determination abs# 183 Paul Kalitsis Loss of RMI2 destabilises the BLM complex in Bloom-like syndrome abs# 184 May Aung-Htut Novel antisense therapy for multiple sclerosis abs# 185 Mahdi Moradi Marjaneh Genome-wide analysis of allelic expression imbalance detects cis-regulatory effect of breast cancer causal SNPs identified by OncoArray project abs# 186 Stephen Huang Klf1 mutations in the second linker cause congenital non-spherocytic hemolytic anemia due to global reduction of in vivo DNA-binding affinity abs# 187 Gregory Davis F28D1.2 influences meiosis to maintain germline chromosomal integrity in Caenorhabditis elegans abs# 188 Quentin Gouil An epigenomic view of seed germination in Arabidopsis thaliana abs# 189 Tanveer Ahmad RNA processing regulates megakaryocytes and platelet production abs# 190

Page 6: Sunday 12th February 2017 - Lorne Genome · Sunday 12th February 2017 Conference ... discovery and validation in Mendelian disease trios ... breast cancer causal SNPs identified by

Aparna Raina Nucleosome positioning as a potential driver of transcriptomic alterations in prostate cancer abs# 191 Kate Brettingham-Moore Methylome profiling in prostate cancer cells following radiotherapy abs# 192 Ingrid Macindoe Mechanism of UBE3A silencing by an antisense transcript abs# 193 Daniele Belluoccio Ultra-high quality DNA synthesis improves representation and fidelity in pooled CRISPR libraries abs# 194 Dong-Mi Shin Hippocampal Transcriptional Networks Altered By Dehydration In Mice abs# 195 Casey Ah-Cann Identification of novel epigenetic regulators of lung development abs# 196 Daniele Belluoccio A Multi-omics Study to Identify Biomarkers of Retinoblastoma abs #197

Page 7: Sunday 12th February 2017 - Lorne Genome · Sunday 12th February 2017 Conference ... discovery and validation in Mendelian disease trios ... breast cancer causal SNPs identified by

Monday 13th February 2017 Breakfast workshop – Single Cell Genomics 7:30AM - 8:25AM Lecture Hall

Micro Break 8:25AM - 8:35AM Session 2: Genomics Technologies 8:35AM - 10:10AM Lecture Hall Chairs: Frank Grutzner & Christine Wells 8:35 AM Evan Eichler Long-read sequencing of complex genomes abs# 14 9:10 AM Stephen Turner Enhancer commissioning and decommissioning regulates lineage-

specific transcriptional activation during virus-specific CD8+ T cell differentiation abs# 15

9:30 AM Jacob Corn

Cas9 genome engineering, from mechanism to therapy abs# 16 Morning Tea 10:10AM - 10:45AM Exhibition Hall

Session 3: Julian Wells Medal/Nuclear Organization and Chromosome Structure 10:55AM - 12:30PM Lecture Hall Chairs: Peter Boag & Vincent Harley

10:55 AM Jenny Graves

Australian genomics, weird animals and sex abs# 17 11:30 AM Tommaso Leonardi

Genomic positional conservation identifies topological anchor point (tap)RNAs linked to developmental loci abs# 18

11:50 AM JoAnne Engebrecht Sex-specific regulation of meiosis abs# 19

Lunch 12:30PM - 1:30PM Exhibition Hall

Bioinformatics workshop 1:30PM - 3:00PM Heritage Dining Room

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Session 4A: Regulation of gene expression 1 3:00PM - 4:00PM Lecture Hall Chairs: Kate Quinlan & Sureshkumar Balasubramanian

3:00 PM Stacey L Edwards

Breast cancer risk at the 12q24 locus is mediated through TBX3 and MED13L regulation. abs# 20

3:15 PM Gretchen Poortinga Targeting ribosomal DNA transcription and nucleolar chromatin in cancer abs# 21

3:30 PM Simon C Barry Mapping regulatory networks and identifying the targets of disease associated genetic risk by chromatin conformation capture in Human Regulatory T cells abs# 22

3:45 PM Garry S. A. Myers Comprehensive definition of the early host cell response to Chlamydia infection by dual RNA-Seq and miRNA-Seq abs# 23

Session 4B: Epigenetics and Epigenomics 3:00PM - 4:00PM Dining Room Chairs: Julia Horsfield & Stephen Turner

3:00 PM Sam Buckberry

Characterising Epigenome Dynamics During the Reprogramming of Somatic Cells to iPS Cells abs# 24

3:15 PM Quentin Gouil Revisiting DNA methylation in plants: moving past CG/CHG/CHH abs# 25

3:30 PM Ruth Pidsley Enduring Epigenetic Landmarks Define the Cancer Microenvironment abs# 26

3:45 PM Natasha Jansz Characterising the Molecular Mechanisms of Transcriptional Control by the Epigenetic Modifier Smchd1 abs# 27

Mini-break 4:00PM - 4:30PM

Session 5: Noncoding RNA and RNA Regulation 4:30PM - 6:30PM Lecture Hall Chairs: Alicia Oshlack & Cameron Bracken

4:30 PM Narry Kim

RNA tails in gene regulation abs# 28 5:05 PM Timothy Bredy

Not available at time of printing abs# 29 5:30 PM Rob Martienssen

Replication, recombination, repair and RNA interference abs# 30 6:05 PM Gurdeep Singh

Embryonic stem cell enhancers conserved among mammals allow the identification of novel transcription factor binding sites abs# 31

6:08 PM Lisa Oyston Functional validation of human Parkinson’s disease GWAS in Drosophila melanogaster. abs# 32

Page 9: Sunday 12th February 2017 - Lorne Genome · Sunday 12th February 2017 Conference ... discovery and validation in Mendelian disease trios ... breast cancer causal SNPs identified by

6:11 PM Oscar Luo RNA-Chromatin Interactome Reveals Chromatin-associated RNA Functions for Transcription Regulation in 3D Genome Organization abs# 33

6:14 PM Nikolay E. Shirokikh TCP-seq records the complete cycle of mRNA-ribosome interactions in vivo abs# 34

6:17 PM Artika Nath An interaction map of circulating metabolites, immune-related gene networks and their genetic regulation abs# 35

6:20 PM Noa Lamm An actin-dependent mechanism facilitates nuclear-cytoplasmic cross-talk to guard genome stability abs# 142

Dinner Break 6:30PM - 8:30PM

Poster Session 2 8:30PM - 11:00PM Exhibition Hall Bidyut Roy Searching for therapeutic targets from whole transcriptome of oral cancer abs# 200 Niketa Bhawsinghka Overlapping promoters and operators of Mycobacteriophage D29 ―An insight into the evolution of regulatory elements abs# 201 Fernando J Rossello Molecular Characterisation of Cell Type-Specific Routes to Pluripotency abs# 202 Veronika Kukučková Supervised learning methods for distinction of cattle production type abs# 204 Alison C Testa Understanding the expression of human disease genes using FANTOM5 expression profiles. abs# 205 Chung-Chau Hon An atlas of human long non-coding RNAs reveals their heterogeneity and evidence of their widespread function abs# 206 Olga Zaytseva Elucidating novel mechanisms for growth control and cancer progression: linking RAS and PI3K pathways with MYC transcription via FUBP1 abs# 207 Kin Tung Tam Identification of a Distal Regulatory Element of the Human Neuroglobin Gene abs# 208 Hamid Alinejad-Rokny Gene Prioritization in Novel Copy Number Variants Regions Associated with Autism abs# 209 Gabriella E Martyn The -115 site of the gamma-globin promoter is a critical cis-acting element involved in binding a gamma-globin repressor abs# 210 Scott Cohen Cryo-EM of human telomerase abs# 211 Tim Thomas A novel high affinity, specific inhibitor of the histone acetyltransferases KAT6A (MOZ) and KAT6B (QKF). abs# 212 Timothy Ravasi Rapid transgenerational adaptation of a reef fish to climate change abs# 213 Jeong Park Implication of p400 ATPase and ATM interaction for an efficient DNA damage response abs# 214

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Owen Rackham Using Data-driven network biology to understand how to control cell fate abs# 215 Cameron P Bracken MicroRNAs fine-tune transcript abundance in a combinatorial manner during Epithelial-Mesenchymal Transition abs# 216 Amarni Thomas Identifying functional roles for novel cis-regulatory elements predicted to regulate the Runx1 gene. abs# 218 Brian Morris FOXO3 longevity interactome on human chromosome 6 abs# 219 Andrew Pattison Investigating the 3’ untranslated region of mRNA in order to understand the drivers of metastasis in primary triple negative breast tumours abs# 220 Ruth Pidsley Critical evaluation of the Illumina MethylationEPIC BeadChip microarray for whole-genome DNA methylation profiling abs# 221 Joshua AM allen Visualisation of telomere recombination-directed replication in ALT cancers abs# 223 Tanit Chavalit Identifying WDR5 as a new KLF3 partner protein by co-immunoprecipitation coupled with mass spectrometry abs# 224 Kate GR Quinlan Krüppel-like Factor 3 (KLF3) regulates the expression of the inflammatory modulator Galectin-3 (Lgals3) abs# 225 Rachel Walters Functional genomic identification of new synaptic regulators. abs# 226 Kevin Gillinder Long-range transcriptional regulation of erythropoiesis by KLF1 abs# 227 Melissa Ilsley A mutation in zinc finger domain of human KLF1 causes congenital dyserythropoietic anaemia (CDA) via promiscuous DNA binding and ectopic target gene expression abs# 228 Graham Magor KLF1 is a pioneer transcription factor for erythroid cells abs# 229 Kiran Asplett Identification of Putative Direct Target Genes of IKZF1 (Ikaros) in Erythropoiesis abs# 230 Vinod Benjamin A study into the role of H3.3 Serine 31 phosphorylation in chromatin regulation abs# 231 Christopher G Tomlinson Developing modifiers of the ALT telomere maintenance pathway abs# 232 Jafar S. Jabbari MegaPlex Targeted Amplicon Sequencing for Increased Efficiency on Illumina Systems abs# 234 Craig McIntosh The use of antisense oligonucleotide-mediated exon skipping to treat Spinocerebellar ataxia type 3 abs# 235 Victoria Shenton Functional validation of obesity-associated genes in vivo abs# 236 Pyung Cheon Lee Genome analysis of a new isolate reddish Planococcus faecalis abs# 237 Samantha Barratt-Ross The Burden of Recurrent and Ancestral Mutations in Families with Hypertrophic Cardiomyopathy abs# 238

Page 11: Sunday 12th February 2017 - Lorne Genome · Sunday 12th February 2017 Conference ... discovery and validation in Mendelian disease trios ... breast cancer causal SNPs identified by

Jeffrey R Mann Expression of the histone H3.3-K27M mutational driver of paediatric glioblastoma causes dwarfism in mice abs# 239 Chamila I Wanigasuriya Screening for novel epigenetic modifiers and characterizing their molecular role in gene expression control abs# 240 Nathan Harmston Investigating the transcriptional differences between in vivo, subcutaneous and orthotopic models of pancreatic cancer. abs# 241 Kelly M Martinovich Rescuing CFTR expression of mutation specific polymorphisms in Cystic Fibrosis patients abs# 242 Kelly Short Glucocorticoid Receptor-mediated repression of Versican during murine lung development abs# 243 Simon A Hardwick Spliced synthetic genes as internal controls in RNA-seq experiments abs# 244 Sarah R Langley Transcriptional landscape of an hPSC system of Huntington’s Disease abs# 245 Alex Tokolyi 3D Cardiomics: An interactive 3D visualisation of the adult cardiac transcriptome abs# 246 James Blackburn Assessing Cancer Gene Fusions Using Targeted Capture Sequencing abs# 247 Rachael McNally Amplicon-based Diversity Profiling of The Microbiome abs# 248 Christian F Nielsen Condensin I Jumpstarts Essential Transcription after Mitosis abs# 249 Maheshi Udugama Role of ATRX in maintaining ribosomal DNA stability and chromatin assembly abs# 250 Thomas Whitington Identification of structural variants from liquid biopsy ctDNA abs# 251 Yasmin Dijkwel Regulation of H2A.Z localisation during the cell cycle abs# 252 Alexandra L Garnham Using singular value decomposition to alleviate batch effects in RNA sequencing data abs# 253 Megan A. Schischka To barcode them all abs# 254 Ulrike Schumann Understanding the function of 5-methylcytosine in mRNA biology abs# 255 V. Pragathi Masamsetti Genomic DNA replication stress induces parallel mechanisms that alter centromere and telomere structure to induce mitotic cell death abs# 256 Mio Tonouchi Enrichment of unamplified DNA and long-read SMRT Sequencing to unlock repeat expansion disorders abs# 257 Mirana Ramialison Decoding the heart: Mining of the regulatory genome. abs# 258 Ronnie Ren Jie Low Telomere loops regulate activation of the DNA damage response by the chromosome end abs# 259 Jessica Fitch Utilising capture-seq to identify noncoding RNAs in the ribosomal RNA gene repeat intergenic spacer as potential drivers of malignancy abs# 260

Page 12: Sunday 12th February 2017 - Lorne Genome · Sunday 12th February 2017 Conference ... discovery and validation in Mendelian disease trios ... breast cancer causal SNPs identified by

Patrick P Stalder Determining how endogenous genomic DNA replication stress translates to ATR inhibitor sensitivity abs# 261 Yuliya V Karpievitch Identification of regions of accessible chromatin from DNA methylome data abs# 262 Michael Lee Development of a whole genome sequencing based classifier to determine telomere maintenance mechanism in tumours abs# 263 Tara K Bartolec Spatio-temporal chromatin dynamics during the DNA damage response abs# 264 Laura Leighton Disrupting the Piwi-interacting RNA pathway in the mouse hippocampus enhances the memory of conditioned fear abs# 265 Qinqin Huang Power, false discovery rate, and Winner's Curse in eQTL studies abs# 266 Alexandra Hackmann A mobile form of TREX-2 like (mTREX-2) complex is involved in the coupling of transcription with mRNA export. abs# 267 Matt Tinning State of the art of single cell transcriptomics. abs# 268 Julian Heng Developmental profiling of RNA expression using PATseq identifies alternative polyadenylation as an important mechanism for the development of cerebral cortex neurons during mouse brain development. abs# 269 James R Torpy Transcriptomic Toolkit for Analysis of Second Generation Sequencing Data in the Cloud abs# 270 Shlomo Yeshurun The Sperm Small RNA Content of Mice is Altered due to Increased Physical Activity abs# 271 Tessa J Sherry Investigating the role of the C-terminal binding protein-1 (CTBP-1) in neuronal development and maintenance in Caenorhabditis elegans abs# 272 Priyanka Toshniwal G-quadruplex DNA formation in the genome and its role in fibrosis. abs# 273 Bhumika Azad The interplay between Heterochromatin- Protein 1 (HP1) and H2A.Z in cancer progression abs# 274 Jinbae Son Dysregulation of rRNA gene chromatin in ovarian cancer abs# 275 Arnold Ou New Class of Small Molecule Multicarbazole Probes for the Targeting Quadraplex DNA. abs# 276 Rui Hou Modelling multi-cellular networks abs# 278 Spencer T Greatorex The human short-chain dehydrogenase/reductase superfamily and their roles in the regulation of endocrine hormone signalling pathways in cancer. abs# 280 Bhupinder Pal Construction of developmental lineage relationships in the mammary gland by single-cell RNA profiling abs# 281 Sarah J Beecroft Searching for the CANVAS disease gene abs# 282 Tracy M Bryan Chromatin remodelling protein ATRX is involved in resolution of G-quadruplexes across the genome abs# 283

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Sarah Henrikus A short window of opportunity: DNA polymerase IV is granted limited access to stalled replication forks in Escherichia coli abs# 284 Kaitlin G Scheer The miR-200 family directly regulates mitogen signalling pathways via multiple target genes abs# 286 Andrew Jarratt A whole genome CRISPR/Cas9 screen for regulators of JAK-STAT signaling reveals epigenetic control by Setdb1 abs# 287 Madara Ratnadiwakara SRSF3 facilitates cell proliferation and controls cell cycle in pluripotent cells through the direct regulation of stem cell specific microRNAs abs# 289 Phillippa Taberlay Three-dimensional disorganization of the cancer genome occurs coincident with long-range genetic and epigenetic alterations abs# 290 Alexandra Woodworth Non-consensus binding of runx1 in aml abs# 291 Renato Lemgruber dRNA-Seq analysis reveals a fascinating transcriptional architecture in Clostridium autoethanogenum abs# 292 Direct competition between DNA binding factors highlights the role of Krüppel-like Factor 1 in the erythroid/megakaryocyte switch abs# 293 Indeewari Dissanayake Gene regulatory networks controlling root developmental plasticity under nitrate and phosphate deficiency in wheat (Triticum aestivum L.) abs# 294 Alex Pocock Discovering microRNA in complex plant genomes: A comparative bioinformatics analysis of miRNA prediction algorithms in land plants. abs# 295 Jazmine Humphreys Unravelling the dynamic regulation of transcriptional networks by chromatin and transcription factors abs# 296 Nandor Roczo Highly Accurate Genetic Profiling of Circulating Tumor Cells using a Label-free Inertial Microfluidic Approach Coupled with Droplet PCR-based Next-Generation Sequencing abs# 297 Nandor Roczo Size Distribution, Yield, and NGS Library Metrics for cfDNA and cfRNA Extracted from Different Donors, Different Body Fluids, and at Different Time-points abs# 298

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Tuesday 14th February 2017

Perkin Elmer BIOO Scientific Reagents Workshop 7:30AM - 8:25AM Lecture Hall Mini Break 8:25AM - 8:35AM Session 6: Disease and Disease Genomics 8:35AM - 10:45AM Lecture Hall Chairs: Andrew Perkins & Leonie Quinn 8:35 AM David Levens

MYC, Topoisomerase, Supercoiling and the FuBPs: Partners in the Control of Global Expression Levels abs# 37

9:10 AM Kathryn North Integrating genomics into clinical practice: the Australian genomics health alliance abs# 38

9:35 AM Irina Voineagu The Role Of The RBFOX1 Splicing Factor In Autism Spectrum Disorders abs# 39

10:00 AM Nissim Benvenisty The Role of Human Parthenogenetic Pluripotent Stem Cells in Imprinting Disorders and Haploidy abs# 40

Morning Tea 10:45AM - 11:15AM Exhibition Hall

Session 7: Evolution and Population Genetics 11:15AM - 12:45PM Lecture Hall Chair: Juliet French

11:15 AM Judith Berman Not available at time of printing abs# 41

11:50 AM David Lambert Ancient and Contemporary Indigenous Genomics of our Region abs# 42

12:15 PM Laura Boykin Cassava brown streak virus has a rapidly evolving genome: implications for virus speciation, variability, diagnosis and host resistance abs# 43

Lunch 12:45PM - 1:30PM Exhibition Hall Lorne Genome AGM 1:30PM - 2:30PM

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Session 8A: Regulation of gene expression 2 2:30PM - 3:30PM Lecture Hall Chairs: & Anne Voss

2:30 PM Ralf Jauch

Programming cell fates with synthetic SOX and OCT transcription factors abs# 44

2:45 PM Benjamin G Gowen Discovery of an autoimmunity-associated IL2RA enhancer by unbiased targeting of transcriptional activation abs# 45

3:00 PM Anja S Knaupp Dissection of the Nanog transcriptional complex by TINC abs# 46

3:15 PM Wei Wei Exploring the role of the epigenetic regulator ING1 in extinction memory abs# 47

Session 8B: RNA Regulation, Disease & Development 2:30PM - 3:30PM Dining Room Chair: Marnie Blewitt

2:30 PM Owen J Marshall

Novel chromatin state transitions occur during neural development abs# 50

2:45 PM Minna-Liisa Anko SRSF3 facilitates reprogramming and coordinates gene expression in pluripotent cells through multiple RNA processing machineries abs# 51

3:00 PM Chikako Ragan Features of biogenesis and function of circular RNAs abs# 49

3:15 PM Leonard Lipovich Primate-specific, estrogen-regulated long non-coding RNA (lncRNA) genes control cell proliferation and cell death in human estrogen receptor positive breast cancer. abs# 48

Mini break 3:30PM - 3:50PM

Session 9: Chromatin and Epigenetics/epigenomics 3:50PM - 5:30PM Lecture Hall Chairs: Alyson Ashe & Phillippa Taberlay

3:50 PM Shelley Berger

Histone acetylation pathways in learning and memory abs# 52 4:25 PM Tamas Fischer

Epigenetic control of pervasive transcription and genomic stability abs# 53

4:50 PM Isabel Bäurle Chromatin regulation of environmental stress memory in plants abs# 54

Mini Break 5:30PM - 5:45PM

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Closing Lecture 5:45PM - 6:30PM Lecture Hall Chair: Traude Beilharz

5:45 PM Susan Gasser The essential role of histone H3K9 methylation in stabilizing the genome abs# 55

Announcement of Conference Awards and Conference Close 6:30PM - 7:30PM Lecture Hall

Conference Dinner 7:30PM - 10:30PM