Genome Sequence Calling & Interpretation - ASIA 

In collaboration with the 15th Asia Pacific Conference on Human Genetics (APCHG), hosted in Yogyakarta, Indonesia, 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 
• Variant curation and clinical 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

Preference will be given to applicants who use genome sequence analysis approaches in their research or clinical work, and are registered to attend the 15th Asia-Pacific Conference of Human Genetics. 

Learning outcomes

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 clinical guidelines for variant classification
• Discuss challenges and ethical considerations in clinical genomics

Programme

This 2 day workshop will be held during the Asia Pacific Conference on Human Genetics (APCHG) 2025 on 4 and 5 November 2025 from 8:00 to 17:30. 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

Gunadi
UGM, Indonesia 

Christian Gilissen
Radboud University Medical Centre, Netherlands

Galuh Astuti
Radboud University Medical Centre, Netherlands

Poh San Lai
National University of Singapore 

Julia Foreman
EMBL-EBI, UK

Wellcome Connecting Science Organising Team

Alice Matimba
.

Lucy Esmond
.

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, and are registered to attend the 15th Asia-Pacific Conference of Human Genetics. 

The workshop is free to attend