Long Read Sequencing for Rare Disease Diagnosis in South Africa - What Have We Learnt So Far?

This webinar will share first-hand experience of implementing long-read sequencing for rare disease diagnosis in South Africa, with a particular focus on neurological disorders. We will discuss: 

• What PacBio HiFi long-read technology has added beyond short-read sequencing
• The types of diagnoses it enables
• The challenges of interpreting structural variation and the non-coding genome in African populations. 

Drawing on real cases from research studies, the talk will focus on the practical challenges encountered so far, the limitations of current approaches, and the lessons learnt from applying long-read sequencing in this context. 

As we enter this new era of genomic testing, we will also touch on the genetic counselling implications of long-read sequencing in the research setting.