Long Read Sequencing for Rare Disease Diagnosis in South Africa What Have We Learnt So Far? скачать в хорошем качестве

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

Join us for an in‑depth look at the real‑world implementation of long‑read sequencing for rare disease diagnosis in South Africa, with a special focus on neurological disorders. In this webinar, our experts share first‑hand experience using PacBio HiFi long‑read technology and explain what it reveals beyond traditional short‑read sequencing. We’ll explore: What long‑read sequencing adds to rare disease diagnosis .Types of diagnoses enabled by long‑read approaches .Challenges in interpreting structural variation .Complexities of working with the non‑coding genome in African populations .Case studies from ongoing research .Practical limitations and lessons learned along the way .Genetic counselling considerations in a research‑based setting Whether you’re a researcher, clinician, student, or anyone passionate about advancing genomic medicine in Africa, this session offers valuable insights into the promise and realities of long‑read sequencing. Speaker Bios Dr Nel — Director, COIN Unit, University of Cape Town Melissa leads the multidisciplinary Clinical Omics and Informatics (COIN) Unit at UCT’s Neuroscience Institute. With a background in clinical medicine, genomics and bioinformatics, she works at the intersection of research and healthcare implementation. Her mission is to build collaborative, locally relevant genomic capacity and advance precision medicine for patients across Africa. Nabeelah — Genetic Counsellor & Variant Scientist, COIN Unit Nabeelah is a genetic counsellor and variant scientist at the COIN Unit. She supports patients and families in understanding their genomic results and the implications of research participation in African contexts. Her work includes variant curation, integrating global standards with African population insights, promoting responsible data sharing, and helping build people‑centred genomic healthcare systems through research.