[sterlind]

> OP, how did you even get the sequence to begin with? [...] no one is willing to pay for it.

My neurologist ordered sequencing for me from Invitae, to determine the subtype of Ehlers-Danlos I have and rule out neuromuscular diseases. She said insurance usually covers it, and it's only a few hundred bucks if they don't. Invitae appears to do WGS for such panels. I've also heard of Nebula genomics offering affordable WGS and exome sequencing.

She said she'd take a look at the results, and if anything popped out as unusual, I'd see a geneticist.

> A question you might want to ponder is: suppose you isolate the problem to a single missense/nonsense/truncation mutation in a protein that seems likely to cause the phenotype. How do you plan to use that information?

Identify the molecular pathway involved and see if there's any drugs available that might modulate it in a therapeutic way. You might also identify similar diseases that might share similar treatments, once you know the etiology.

Once a mutation or gene responsible is identified, other patients can be as well, which can slowly lead to mouse models and clinical trials etc.