ClinVar

Right.

It selects FASPRP, BWA-MM2, JDK haplotype caller, deep variant, and sense in PF with ClinVar.

Yeah.

And here is where the magic moment happens in the example.

So now we're going to say, well, is it having a consequence? And is that consequence important to disease? So there are a lot of algorithms now that are predicting what is the impact on clinical data.

And we have resources like ClinVar, we have ClinGen and the process of having the clinician involved through that vetting stage.

And we have some guidelines that we use to say that this is statistically associated and likely to be pathogenic, likely pathogenic, other categories.

And that includes variants of unknown significance.

Yeah.

And you could see, you know, what your background looks like in the context of 1000 Genomes, and then you could al- take all the SNPs that you have in ClinVar and see, you know, how those SNPs are contextualized, et cetera, et cetera.

Oh, okay.

So that would be, you know, that's something that you could do that, that might be interesting.

W- where do you, where do you see it happening that access to better tools is not translating into better outcomes?

Oh, that's a great question, and I think the answer is, and this is almost an old adage, but when people use fancier and fancier tools to ask the same questions they've been asking for a long time.

And I think really that happens when people fail to do the work to contextualize biology, right? If you have a particular SNP in ClinVar, and that there's a penetrance measured in, you know, a particular population, you know, in, in Germany or the United States or something like that- One thing that has been very clear, particularly with papers just in the last few months, is that may not be the same level of penetrance, you may not get the same presentation with folks that are in Pakistan, for example, at least on a sort of social, societal level.

And then I would say that, you know, we, we often completely ignore, you know, things that have, you know, two, three, four, five genomic loci that are really, you know, important in, you know, manifestation and presentation of disease.

Mm.

Um, so it works with like ClinVar, PubMed, it pulls in all these different sources of data, and it creates basically evidence for a particular, uh, situation that you may have.

Let's say you have, uh, ADHD like I do.

Um, it may say, "These are all the things that could be impacting your ADHD.