Genome Sequence Analysis for Clinical Interpretation - ASIA (HGA2023 Workshop)

In collaboration with the 14th Asia Pacific Conference on Human Genetics (APCHG), the 68th Annual Meeting of the Japan Society of Human Genetics (JSHG), and the 22nd meeting of the East Asia Union of Human Genetics Society (EAUHGS), hosted in Tokyo, Japan, we are delighted to offer this free-to-attend, 2-day workshop on the application of genome sequence technologies for clinical applications

Genome sequence technologies encompassing gene panels, whole exome sequencing (WES) and whole genome sequencing (WGS) are increasingly becoming accessible for research and clinical diagnostics globally. Despite the growing body of data being generated, analysing and interpretation of these data remains a challenge due to limited capacity among healthcare professionals and scientists.

This workshop focuses on the scientific principles and tools of genomic analysis and interpretation that underpin clinical research and practice and covers the following areas:

• Sequence analysis workflows for variant interpretation for clinical applications
• Online variant interpretation tools including DECIPHER
• Variant curation and ACMG guidelines

Target Audience

The workshop is aimed at researchers and clinicians/healthcare professionals in the field of human and clinical genomics who use or plan to use genome sequence analysis approaches in their research or clinical work.

This is an in-person course and virtual/online attendance will not be possible. All participants are requested to attend all of the sessions in-person and participate in networking to benefit fully from discussions and interactions.

Pre-requisites

Anyone attending the Human Genetics Asia 2023 Conference. 

Please note: Applications and acceptance will be based on a first-come basis, provided that the eligibility requirements are met

After attending this workshop, participants will be able to:

• Describe the various genomic technologies in human disease management
• Apply appropriate methods and workflows in analysis and interpretation of sequence data for clinical applications
• Apply web-based resources to facilitate interpretation of sequence variants
• Assess the structure and application of the ACMG framework for variant classification
• Discuss challenges and ethical considerations in clinical genomics

This 2 day workshop will be held during the Human Genetics Asia 2023 Conference (HGA2023) on 12 and 13 October 2023 from 8am – 6pm. Participants will be introduced to sequence analysis workflows, key electronic resources and open access tools for variant annotation, interpretation and curation. Case studies will be incorporated to demonstrate key steps in research and potential utility in clinical diagnostics. You will be required to bring your own laptop.

Topics

This workshop focuses on the scientific principles and tools of genomic analysis and interpretation that underpin clinical research and practice and covers the following topics.

• Overview of sequencing technologies for clinical applications
• Sequence analysis workflows
• RNAseq analysis 
• Tools for variant interpretation
• Introduction to DECIPHER
• SNV and CNV interpretations
• Variant curation and ACMG guidelines
• Challenges of clinical genomics and ethical considerations

Training Team

Poh San Lai
National University of Singapore 

Christian Gilissen
Radboud University Medical Centre, Netherlands

Dougu Nam
UNIST, South Korea

Lot Snijders Blok
Radboud University Medical Centre, Netherlands

Wei Ma
Hong Kong Genome Institute, China

Grace Tan
National University of Singapore 

Julia Foreman
EMBL-EBI, UK

Bukyung Baik
UNIST, South Korea

Wellcome Connecting Science Organising Team

Alice Matimba
.

Treasa Creavin 
.

Karon Chappell
.

Isabela Malta
.

Please note that eligibility criteria will be taken into consideration for acceptance onto the workshop. The workshop is aimed at researchers and clinicians/healthcare professionals in the field of human and clinical genomics. Preference will be given to applicants who use genome sequence analysis approaches in their research or clinical work.

Confirmation of acceptance

Confirmation of acceptance to participate on the workshop will be made on a rolling basis. To ensure a productive learning environment, workshop capacity is limited. Therefore, you are encouraged to apply as soon as possible to secure your spot, provided that you meet the eligibility requirements. 

Please note:  This workshop  is open only to individuals who are already registered to attend the HGA2023 conference.   You will require a separate registration for the main conference. If you have not yet registered for the conference, kindly visit the conference website to complete your registration process.

How to Apply
Please complete the online application form. If you have any problems with the online application process, please contact us.

The workshop is free to attend for attendees of the HGA2023.