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APR 24-26, 2019 | SEOUL, SOUTH KOREA

Programme Highlights


PacBio Informatics Workshop: Long-read Sequencing of Human Genomes

Date: April 24, 2019

Time: 9:00 a.m. - 2:00 p.m.

Location: Ewha Womans University, ECC Theater, Seoul, South Korea

During this workshop, you will learn about the latest methods for PacBio sequencing of human genomes to comprehensively detect all variant types (SNVs, Indels, SVs, CNVs), and construct reference-quality human genome assemblies. New high accuracy long-read sequencing data from the Sequel II System will be used to describe analysis methods available to the community for human genetics research. The workshop will be presented by PacBio’s principal bioinformatics scientists, and includes a keynote presentation by Jonas Korlach, Chief Scientific Officer at PacBio.

PacBio Speakers :

Latest Capabilities & Future Directions of PacBio Long-read Sequencing

Jonas Korlach, Ph.D., Chief Scientific Officer, PacBio

Accurate Characterization of Complex Isoforms in Bulk and Single Cell Transcriptome Using the PacBio Iso-Seq Method

Elizabeth Tseng, Ph.D., Principal Scientist, PacBio

Comprehensive Variant Detection with Highly Accurate Long Reads

William Rowell, Senior Scientist, Bioinformatics Applications, PacBio

Assembly and Phasing of Human Genomes Using Highly Accurate Long-read Sequencing

Gregory Concepcion, Ph.D., Staff Engineer, Bioinformatics Applications, PacBio

SMRT Analysis for Human Genomes

Wilson Cheng, Scientist II, Bioinformatics FAS, PacBio

Identifying Pathogenic Structural Variant in Unresolved Case of Epilepsy from PacBio Long-read WGS

Takeshi Mizuguchi, M.D., Ph.D., Department of Human Genetics, Yokohama City University Graduate School of Medicine

Toward an ethnic reference genome

Jun Takayama, Ph.D., Assistant Professor, Tohoku University INGEM

[HUGO Trainee Session]

08:30 - 09:00

Opening & Welcome

by Charles Lee and Trainee Committee Chair

09:00 – 09:30

30 minutes Presentation including 10 minutes Q&A

by Cisca Wijmenga

09:40 - 10:30

Lightning session 1

7mins x 7 talks

* Talks are 5 min +2 for questions

10:40 - 11:10

30 minutes Presentation including 10 minutes Q&A

by Jonas Korlach (CTO of PacBio)

11:10 - 12:10

Lunch and meeting with editors and scientists at tables (3 x20 min rotations)

* Sign up for 3 in advanced is required during registration in the morning *

12:20 - 13:10

Lightning session 2

7mins x 7 talks

* Talks are 5 min +2 for questions

13:20 - 13:50

30 minutes Presentation including 10 minutes Q&A

by David Bentley (VP&Chief Scientist of Illumina)

13:50 - 13:55

Closing remarks

[HUGO Ethics Workshop]

The HUGO Genome Meeting 2019: Towards Implementing Genomic Medicine

April 24-26 – EWHA Womans University, Seoul, South Korea

Open Science

What do we need to know to protect the interests of Publics and Scientists?

A workshop presented by the HUGO Committee on Ethics, Law and Society (CELS), the Human Variome Project and the EWHA Institute for Biomedical Law and Ethics

In a world where there is increasing will to ensure that all benefit from scientific advances, how do those working in the space of human genomics contribute to this?

One model is Open Science, characterised by the principle of the free dissemination of knowledge, with the goal to accelerate innovation and streamline translation from bench to application.

The idea that science is accessible to everyone, anywhere in the world, raises important questions for scientists. This workshop will provide an overview of the ethical and legal implications for global research.

Wednesday 24th April
9.00-9.10 Welcome (10)

Prof Kyung Suk Choi, Director of the EWHA Institute for Biomedical Law and Ethics (EWHA Womans University, South Korea)

9.10-9.30 Introduction to ‘Open Science’ (20)

Assoc Prof Benjamin Capps, Chair HUGO CELS, Department of Bioethics (Dalhousie University, Canada)

09.30-10.10 What is Open Science? (40)

Assoc Prof Yann Joly, Research Director of the Centre of Genomics and Policies (Montreal University, Canada) (20)

Commentary by Prof So Yoon Kim, Director of Medical Law and Ethics, College of Medicine (Yonsei University, South Korea) (10)

Chaired by Dr Vicki Xafis, Centre for Biomedical Ethics (National University of Singapore, Singapore) (10)

10.10-11.50 Why Do Open Science? (40)

Prof Ruth Chadwick, Professor Emerita (Cardiff University, UK) & Visiting Professor @ IDEA Centre (University of Leeds, UK) (20)

Commentary by Prof Catherine Mills, Monash Bioethics Centre (Monash University, Australia) (10)

Chaired by Assistant Prof Tamra Lysaght, Vice Chair HUGO CELS, Centre for Biomedical Ethics (NUS, Singapore) (10)

Break 10.50-11.10 (20)
11.10-11.50 Benefits and Evidence of Open Science Initiatives (40)

Helen Robinson, HVP and Nossal Institute for Global Health (University of Melbourne, Australia) (20)

Commentary by Professor Ingrid Winship, (University of Melbourne, Australia) (10)

Chaired by Dr Owen Schaefer, Centre for Biomedical Ethics (NUS, Singapore) (10)

11.50-12.30 Legal Challenges for Open Science (40)

Won Bok Lee (Korea) EWHA Institute for Biomedical Law and Ethics (EWHA Womans University, South Korea) (20)

Commentary by Markus Ladube, Centre for Biomedical Ethics (NUS, Singapore) (10)

Chaired by A/Prof Tamra Lysaght, Centre for Biomedical Ethics (NUS, Singapore) (10)

12.30-13.00 Panel Discussion (30)

Chaired by Benjamin Capps

[HGVS Nomenclature Session]

HGVS nomenclature

Wednesday April 24, Seoul (South Korea)

Interested in HGVS nomenclature? Want to learn the basics? Want to increase your knowledge? Wiling to test your skills in describing variants?

Join us at the HGM2019 in Seoul for the HGVS nomenclature workshop!

HGVS nomenclature, the HGVS recommendations for the description of sequence variants, are currently supported by HGVS, HVP, HUGO and GA4GH. HGVS nomenclature is the language by which scientific papers and diagnostic reports describe genetic variation, variants in DNA, RNA and protein sequences. Understanding this language, and knowing how to use it, is crucial for mutual understanding between scientists and for the accuracy of scientific and diagnostic reporting. A correct use of the HGVS recommendations prevents miscommunication and ensures that variants are uniquely described and can be efficiently retrieved from existing data repositories facilitating variant annotation and classification.

The aim of the course is to give participants a detailed overview of the HGVS nomenclature (Den Dunnen et al., 2017, Hum.Mutat. 37:564, The course will start simple, gradually go deeper and be interactive, i.e. participants test their skills continuously. Both beginners and experienced users should receive useful information.

The workshop will be an e-workshop; all materials will be provided in electronic format only. Participants are requested to bring their own laptop, tablet or smart phone to be able to use the internet and try the exercises. Participants are encouraged to bring examples of cases where they doubt how to describe the variant correctly.


09.00 Welcome & Introduction

purpose of the nomenclature (standard), short history, terminology, Sequence Variant Description Working Group (SVD-WG), versioning, types of variants

09.30 The basics

reference sequences, IUPAC symbols, residue-numbering conventions, variant types, simple basic descriptions, symbols used, priorities, substitutions, online support tools

10.30 Break

11.00 Deletions, duplications, insertions and other variant types

11.45 Description of variants at the RNA & protein levels

consequences resulting from changes in splicing and/or the open reading frame (missense, nonsense, frame shift)

12.30 Q&A, discussion, evaluation

13.00 Close

Johan den Dunnen

chair HGVS SVD-WG (Sequence Variant Description Working Group)

[Global Consortium for Genomic Education]

“Genomic Education and Training for Healthcare”

Sponsored by the ‘Global Consortium for Genomic Education (GC4GE)’, The Genomic Medicine Foundation, UK (


Professor Dhavendra Kumar, Institute of Medical Genetics, Cardiff University School of Medicine, UK & Genomic Policy Unit, University of South Wales, Wales, UK; Chair- Global Consortium for Genomic Education (GC4GE); CEO & Medical Director- The Genomic Medicine Foundation (UK).

Session objectives:

  • Essential skills and competencies for delivering the effective genomic medicine & healthcare
  • Core curriculum for genomic education & training
  • Organization and quality outcomes of genomic education & training program
  • Genomic education and training in developing and less developed nations
  • Role of public and media in genetic and genomic education
  • Continuous genetic and genomic education through tertiary multi-disciplinary specialist genetic & genomic clinics (oncology, cardiac, neuro, fetal/neonatal etc.)

Session plan

Date: 24 April 2019

Program - Tentative: 30 minutes each including 5 minutes for questions/answers followed by one hour panel discussion

0830 Registration
0900 Welcome/ Introduction
Stylianos Antonarakis, Geneva, Switzerland (Past President- HUGO)
0915 The Global Status of Genetic/Genomic Education-Mainstreaming of genetic/genomic medicine education
Dhavendra Kumar, Cardiff, UK (
0945 Genomic Medicine teaching/ training for NHS UK
Mark Caulfield, London, UK (
1015 Genomic Medicine training program in North America
Heather Junkins Colley, NHGRI, Bethesda, MD, USA (
1045 Status of Genomic Medicine education & training in Asia-Pacific Region
Eva Maria Cutiongco-de la Paz, MD
Executive Director, National Institutes of Health
University of the Philippines Manila(
1115 Tea/ Coffee Break
1130 Education & Training for Genetic Counselors in the Far East
Mercy Laurino, Manila, The Philippines; (
1200 Genetic counseling education & training program of India
Annie Hasan, Director, Board of Genetic Counseling, India (
1230 Panel Discussion- All Speakers/ Dhavendra Kumar (Lead)
Participants- All audience and invitees
Informal led by questions and discussion
1330 Close of the Session

[Clinical Laboratory Genomics Luncheon Session]

[Conference Dinner at Samcheonggak]

Enjoy the Conference Dinner at Samcheonggak and network with fellow colleagues!

Samcheonggak is a traditional Korean restaurant and cultural space. Stylish and classy, Samcheonggak specializes in hanjeongsik (Korean table d'hote) and royal cuisine. Visitors can enjoy a traditional Korean performance arts.

Reflecting its name (literally the ‘House with Threefold Purity’), Samcheonggak is located in one of the most pristine places in the city and has born witness to standout moments in Korean history. It was the venue for the banquet for the Joint Statement (July 4, 2007) between North and South Korean representatives.

Do not miss your chance to enjoy the genuine Korean culture and cuisine, and also have networking opportunities with scientists over the world!