Scaling a clinical sequencing workflow for rare disease research

NewbornsInSA is one of Australia’s first large‑scale studies exploring how genomics and metabolomics could enhance newborn screening in a real‑world public health setting. In this webinar, Professor Kassahn will share what the study uncovered about the potential of genomic and metabolomic screening, how families and clinicians responded to this new approach, practical lessons from implementing a clinically accredited genomic workflow and opportunities and challenges for expanding newborn screening in Australia.

Each MiniBootcamp focuses on a single omics modality and grounds core analytical concepts in a realistic, hands‑on context.