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

Long-read sequencing COULD matter in the clinic in the future if they get cost down & throughput significantly higher. As comparison, a whole genome w/ $PACB HiFi takes several days per patient per sequencer. Unusable in the clinic. Each Saphyr can run 96 patients per week! $BNGO

The tests start with chromosomal microarray (CMA), karyotyping, and then repeat expansion testing, single gene or gene panel testing, and whole exome sequencing. This long and expensive process still leaves 50% of children undiagnosed. $BNGO