Discover and read the best of Twitter Threads about #saphyr
Most recents (1)
People often ask why structural variants (SV) are so important and why $BNGO is laser focused on revolutionizing the way they are detected in the clinic. Doesn’t the success of $PACB and $ILMN show that sequencing and the small variants it detects are what matters?
Let’s look at what happens in the industrialized world when a doctor orders a genome to be analyzed. If a child has a suspected genetic disease, medical guidelines recommend successive testing rounds until a pathogenic variant is found or all techniques have been exhausted. $BNGO
Before we go into detail, let’s start by pointing out that this NEVER involves long-read whole genome sequencing by $PACB or Nanopore. Never, nowhere. Those are niche sequencing technologies for reference genome projects but not practical for the clinic. $BNGO
