HiFi WGS As A (Nearly) Unified Tool For Rare Genetic Disease Diagnosis

What is now way back in February, Alexander Hoischen presented a talk at AGBT which described early results from an effort to apply PacBio HiFi sequencing at scale for solving rare disease cases.  Hoischen passionately made the case for how providing a diagnosis can change affected families.  It's also worth noting how important rare disease genetics has been to the history of biology, illuminating new processes and entire pathways.  Something I hadn't appreciated until his presentation is how many technologies are currently thrown at a case in current workflows because each technology can cover a few types of mutations but miss others.  So this is good snapshot of the current state of human genomics technology with hints of where it might be going.  And Hoischen made a strong case that many other technologies  - but not all of them - can be retired if PacBio HiFi sequencing is the lead approach.  A longer, similar talk is also available as a PacBio-sponsored webinar given by Lissenka Vissers from the same institution and some of the data is in a preprint linked below.Read more »