Whole Genome Sequencing as a Mainstay: Redefining Precision in Genetic Medicine Research

Whole Genome Sequencing as a Mainstay: Redefining Precision in Genetic Medicine

Rare and Undiagnosed Genetic Disorders (RUGDs) present significant challenges for researchers due to their genetic complexity and heterogeneous presentations. While targeted sequencing approaches have advanced our understanding of these conditions, there remains a need for broader genomic approaches to investigate underlying genetic mechanisms.

This webinar will explore how Whole Genome Sequencing (WGS) can be utilised to support the study of genomic variation, identify novel disease-associated variants, and generate deeper insights into complex genetic architectures. Drawing on his experience and collaborative genomics initiatives, the speaker will discuss how WGS is contributing to rare disease research and expanding our understanding of human genetic diversity.

The key things you all learn in this webinar are:

• Understand current challenges in studying Rare and Undiagnosed Genetic Disorders (RUGDs)
• Explore how Whole Genome Sequencing offers comprehensive insight into complex genomic analysis and is advantageous over targeted sequencing approaches
• Review emerging research evidence and published studies demonstrating the application of WGS in rare disease research
• Explore future directions in genomics research, including multi-omics integration and AI-enabled approaches to genomic analysis

Speakers:

Dr Vinod Scaria Chief Data Office | Karkinos Healthcare Dr Vinod Scaria is a computational biologist and genomics scientist with extensive experience in population genomics, rare disease research and genomics informatics. His research spans the application of genomics and bioinformatics to advance understanding of human genetic diversity and rare genetic conditions. He is the co-founder of the Genomics for Understanding Rare Disease: India Alliance Network (GUaRDIAN), one of the largest networks of clinicians and researchers in India working on rare genetic diseases. He has contributed to collaborative genomics projects focused on Indian and Asian genome diversity, including early whole genome sequencing population genomics projects across India, Sri Lanka and Malaysia, and is a member of the HUGO Pan-Asian Population Genomics Initiative taskforce.