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), whole genome sequencing (WGS), and long-read sequencing 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 hands-on 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.

Participants will engage in structured learning that begins with essential principles and progresses to more in-depth, applied discussions. The content is suitable for those seeking a comprehensive starting point with opportunities to explore more complex examples.

Pre-requisites

This workshop  is open only to individuals who are already registered to attend the 15th Asia-Pacific Conference of Human Genetics.  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.

Participants must bring their own laptop, with a minimum of 8 GB RAM, an i5 processor (or equivalent), and approximately 10 GB of free disk space. Please ensure you have administrative access to your device, as software installation may be required during the workshop. Laptops need to have the latest IGV software installed (https://igv.org/doc/desktop/#DownloadPage/). 

After attending this workshop, participants will be able to:

• Describe the  strengths, limitations, and common pitfalls  of various genomic technologies in human disease diagnostics
• 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 (ACMG/AMP)
• Discuss challenges and ethical considerations in clinical genomics

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. 

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 (exomes, short-read genomes and long-read genomes)
• Understanding sequencing data formats and variant visualization with IGV
• 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

Eva Cutiongco de la Paz
University of the Philippines

Robin Wijngaard
Radboud University Medical Centre, Netherlands

Donny Nauphar
Universitas Swadaya Gunung Jati, Indonesia 

Petrus Gandi 
Universitas Gadjah Mada, Indonesia

Yunia Sribudiani
Universitas Padjadjaran, Indonesia 

Anik Budhi Dharmayanthi
National Research & Innovation Agency, Indonesia

Alvin Santoso Kalim
Universitas Gadjah Mada, Indonesia

Nova Yuli Prasetyo Budi
Universitas Gadjah Mada, Indonesia

Kristy Iskandar
Universitas Gadjah Mada, Indonesia

Setiani Silvi
Universitas Gadjah Mada, Indonesia

Kurnia Corie
Universitas Gadjah Mada, Indonesia

Stella Eryvinka
Universitas Gadjah Mada, Indonesia

Wellcome Connecting Science Organising Team

Isabela Malta
.

Alice Matimba
.

Lucy Esmond
.

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 for those who have registered to attend the conference.