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HUMAN GENOME MEETING 2019

APR 24-26, 2019 | SEOUL, SOUTH KOREA

Scientific Program

Note: The programme below is accurate as of January 2019 and is subject to change.

Time Wednesday, 24 April 2019
08:00 - 09:00 Registration
09:00 - 14:00 Trainee Session
(LSB Hall)
Ethics Workshop
(ECC B144)
HGVS Nomenclature Session
(LG Convention Hall)
Global Consortium for
Genomic Education
(Samsung Hall)
Long-Read
Computational Workshop
(ECC Theater)
13:00 - 14:00 Registration

Luncheon Session by ThermoFisher Scientific
(LG Convention Hall)

MyungShin Kim, Seoul St. Mary’s Hospital, South Korea
“Progress in precision medicine in clinic”

14:00 - 14:15 Opening
14:15 - 15:00 Plenary 1 - Diana Bianchi, NIH, US
“Prenatal Genomic Medicine: Transforming Obstetric Practice and Delivering New Biological Insights”
Chair: Eva Cutiongco De La Paz, University of the Philippines Manila, Philippines
15:00 - 15:45 Plenary 2 - V.Narry Kim, Seoul National University, South Korea
“RNA terminal modification in gene regulation”
Chair: Piero Carninci, RIKEN, Japan
15:45 - 16:15 Coffee Break
16:15 - 17:45
Symposium 1 - Functional Genomics: From genotype to phenotype
Chair:
Alistair Forrest, University of Western Australia, Australia
Jaesang Kim, Ewha Womans University, South korea

Yoav Gilad, The University of Chicago, US
“Functional genomics studies in humans; understanding the regulatory code and realizing personalized medicine”

Chris Tyler-Smith, Wellcome Sanger Institute, UK
“Modelling human positively-selected alleles in mice”

Scientific Session by Twist Biosciences

Bryan Hӧglund, Product Manager, NGS, Twist Bioscience
“Leading the way in target enrichment: Exceptional performance, improved efficiency and rapid customization of targeted sequencing”

Symposium 2 - KOGO Session
Chair:
DaeHee Hwang, Seoul National University, South Korea
Sangsoo Kim, Soongsil University, South Korea

Jeong Ho Lee, KAIST, South Korea
“Brain somatic mutations in neurological disorders”

JungKyoon Choi, KAIST, South Korea
“Whole-genome homozygosity mapping implicates a social memory gene in autism”

DaeHee Hwang, Seoul National University, South Korea
“Proteogenomic analysis of diffuse gastric cancers”

17:45 - 20:00 Welcome Reception
Time Thursday, 25 April 2019
09:00 - 10:30
Symposium 3 - Provision of Genetics Services & Testing
Chair:
Youngjoon Kim, Yonsei University, South Korea

Mark Caulfield, Genomics England, UK
“The 100,000 Genomes Project – transforming genomic health”

Scientific Session by Illumina

David Bentley, Vice President and Chief Scientist, Illumina Inc
“Genomes for medicine: Clinical genomics in the population”

Guida Landouré, M.D., Ph.D., University of Bamako, Mali
“Genetics of neurogenetic diseases: bringing Africa into play”

Scientific Session by ThermoFisher Scientific

Ju Han Kim, Seoul National University, South Korea
“Star allele-based haplotyping vs. gene-wise variant burden scoring for predicting 6-MP intolerance in pediatric ALL patients.”

Symposium 4 - Breakthroughs in Cancer Genomics
Chair:
Sung-Soo Yoon, Seoul National University Hospital, Korea
Harry Ostrer, Albert Einstein College of Medicine, US

Nic Waddell, QIMR Berghofer Medical Research Institute, Australia
“Cancer whole genome sequencing: from predisposition to immunogenomics.”

Nickolas Papadopoulos, Johns Hopkins Medicine, US
“Non-invasive early detection of cancer”

Scientific Session by DAON BioSciences(10X Genomics)

Anjana S. Narayanan, Product Manager, 10x Genomics
“Identifying genetic variation and cellular heterogeneity with a comprehensive cancer analysis toolkit”

10:30 - 11:00 Coffee Break & Exhibition
11:00 - 11:45 Plenary 3 - Harry Ostrer, Albert Einstein College of Medicine, Australia
“Personalized medicine, precision medicine and global health”
Chair: Juergen Reichardt, Ecuador
11:45 - 13:30

By Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics

Dr. Carlos Bacino
“The combined use of exome sequencing and array CGH increases disease detection”

Dr. Seung Han Shin
“Neonatal exome cases”

Dr. Tak Yeung Leung
“Power and limitations of NIPT”

Dr. Richard KW CHOY
“Multidisciplinary approach in preimplantation genetic testing for aneuploidy and monogenic diseases”

Dr. Seung Mi Lee
Case presentation & discussion

Dr. Susan Mockus
“Complexity of reporting on clinically relevant somatic cancer variants”

Dr. Chan Young Ock
Case presentation & discussion

Luncheon Session by JCBio (Oxford Nanopore)

James Brayer, Oxford Nanopore Technologies
“Whole Genome sequencing using Oxford Nanopore Technologies to enable High Quality reference genomes”

Sang-Choon Lee, Phyzen
“De novo assembly of non-human genomes using Nanopore sequencing data”

Merle L. Gilbert, Public Health Activity-Korea
“Environmental Surveillance and Genome Sequencing to Support Food-borne Illness Prevention”

13:30 - 15:00
Symposium 5 - Emerging Concepts of the Microbiome
Chair:
Hansoo Park, Gwangju Institute of Science and Technology, Korea
Vasilis Vasiliou, Yale University, US

Eran Segal, Weizmann Institute of Science, Israel
“Personalized medicine using gut microbiome and clinical data”

Cisca Wijmenga, University of Groningen, Netherlands
“Men, Microbes and Mini-guts”

George Weinstock, Jackson Laboratory for Genomic Medicine, US
“The host, the Microbiome, and vice versa”

Symposium 6 - Selected Abstracts
Chair:
Rose Yun Li, University of California San Francisco, US
Sung-Yup Cho, Seoul National University, South Korea

Danielle Tomasello, Whitehead Institute for Biomedical Research, US
“FAM57B Ceramide Synthase, a Hub Gene within 16p11.2 Deletion Syndrome, Maintains Physiological Lipid Membrane Composition”

Ilbin Kim, Korea Advanced Institute of Science and Technology (KAIST), South Korea
“Noncoding De Novo Mutations Contribute to Autism Risk via Long-Range Regulatory Interactions”

Yan Asmann, Mayo Clinic, US
“REAL-neo, A Comprehensive Neoantigen Identification and Prioritization Pipeline Using Tumor Sequencing Data”

Karen Wong, UCSF, US
“Constructing a human pan-genome reference for personalized genomics”

Nirmala Dushyanthi Sirisena, Sri Lanka, University of Colombo
“PPP1R16B Is A Critical Gene In 20q11.2 Microdeletion Syndrome: Loss Of Function Variant In PPP1R16B In A Girl With Multiple Congenital Anomalies”

Stephane Jamain, Inserm, France
“Combining Gene Expression And Genotyping Data To Predict Treatment Response In Psychiatric Disorders”

Yu Amanda Guo, Genome Institute of Singapore, Singapore
“Systematic Identification Of Non-coding Mutation Hotpots In Gastric Cancer”

Jiahui Ma, RIKEN, Japan
“Integrating Co-expression Networks with GWAS for Prioritization of Non- coding RNAs at Risk Loci Associated with Neurological Disorders”

Wan-Ping Lee, The Jackson Laboratory for Genomic Medicine, US
“Graph genome for accurate sequencing data analyses”

15:00 - 16:30 Coffee Break & Poster Walk Session & Exhibition
16:30 - 17:45
Symposium 7 - Computational /Statistics Genomics
Chair:
Sanghyuk Lee, Ewha Womans University, Korea
Dave Burt, University of Queensland, Australia

Pui-Yan Kwok, UCSF, US
“Building Population-Specific Genome References”

Jong Il Kim, SNU, Korea
“Northeast Asian Reference Database for Precision Medicine”

Scientific Session by Macrogen

Kim, Hong Sung, Director/Senior Principal Scientist, Macrogen
“CRISPR/Cas9 system and Single Cell RNA Sequencing by Macrogen, Inc”

Symposium 8 - Population / Evolutionary Genetics
Chair:
Helen Robinson, Nossal Institute for Global Health, Australia
Bin Alwi Zilfalil, Universiti Sains Malaysia, Malaysia

Charles Rotimi, NIH, US
“History of the complex architecture of African genomes in health and disease”

Jian Jun Liu, Genome Institute of Singapore, Singapore
“Large-scale whole-genome sequencing of three diverse Asian populations in Singapore”

Shuhua Xu, CAS-MPG Partner Institute for Computational Biology, China
“Understanding the biological meaning of the human genome sequence by studying diverse indigenous populations in East Asia and Southeast Asia”

17:45 - 18:30 Travel to the venue
18:30 - 21:00 Conference Dinner (Ticketed Event)
Time Friday, 26 April 2019
09:00 - 10:30
Symposium 9 – Single Cell Biology – The Cell Atlases
Chair:
Piero Carninci, RIKEN, Japan
Woongyang Park, Sungkyunkwan University, Korea

Cai Long, California Institute of Technology, US
“Spatial Genomics: in situ transcriptome profiling by RNA seqFISH+”

Efrat Shema, Weizmann Institute of Science, Israel
“Revealing the epigenetic regulatory network with single-molecule precision”

Roser Vento, Wellcome Sanger Institute, UK
“Mapping the female reproductive tissue one cell at a time”

Symposium 10 – Consanguinity / Rare Genetics & Carrier Screening
Chair:
Fowzan Alkuraya, King Faisal Specialist Hospital and Research Centre, Saudi Arabia
Injin Jang, Seoul National University, South Korea

Fowzan Alkuraya, King Faisal Specialist Hospital and Research Centre, Saudi Arabia
“What have we learned from high throughput characterization of recessive disorders in Saudi Arabia?”

Ingrid Winship & Daniel Buchanan, The Royal Melbourne Hospital
“Sebaceous skin lesions and Lynch Syndrome, a definitive study”

Eva Maria Cutiongco-De La Paz, University of the Philippines Manila
“Identifying genetic variants conferring susceptibility to infection in the indigenous population of the Philippines”

10:30 - 11:30 Coffee Break & Poster Walk Session II & Exhibition
11:30 - 12:15 Plenary 4 - Leslie Biesecker, ASHG, US
“The Myths of Clinical Genomics”
Chair : Carmencita Padilla, University of the Philippines Manila, Phillippines
12:15 - 13:30

Luncheon Session by MGI

BROCK A. PETERS, Complete Genomics Inc. US
“Accurate and true genome sequencing technology”

Luncheon Session by The Jackson Laboratory

James Keck, Senior Director, Innovation & Product Development, In Vivo Service, The Jackson Laboratory
“Utilization of New Humanized Mouse Models to Better Understand Emerging Immunomodulation Therapies”

James Hoffman, Asia Development Liaison, Marketing, The Jackson Laboratory
“Resources for Successful Genetics and Genomics Research Using Mouse Models”

13:30 - 14:30 Chen Award
Chair: Charles Lee, The Jackson Laboratory

Felix Jin Li, Vice President at the Fudan University
“Human Phenome Study: A New Paradigm”

Dr. DasGupta, Senior Investigator at the Genome Institute of Singapore (Cancer Therapeutics and Stratified Oncology)
“Tumor evolution: through the looking glass of a single cell”

Anshul Kundaje, Assistant Professor at Stanford University
“Deciphering dynamic cis-regulatory logic of the human genome using interpretable deep learning models of large-scale functional genomics data”

14:30 - 14:50 HUGO African Prize
Chair : Charles Rotimi, NIH, US

Christian Happi, Director at African Center of Excellence for Genomics of Infectious Diseases (ACEGID)
“Genomic Surveillance and Characterization of Microbial Threats Facilitates Early Detection and Containment of Disease Outbreaks in West Africa.”

14:50 - 15:00 Student Award
Chair : Juergen Reichardt, James Cook University, Australia
15:00 - 15:20 Closing Remarks
15:40 - 20:00 Council Meeting (Invitation Only)