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This could be especially useful for people who get a VUS on a genetic test. I’m an ML engineer, not a biologist, and the precomputed Atlas meant I could just lo
by sicklyscientist 20d ago
This could be especially useful for people who get a VUS on a genetic test. I’m an ML engineer, not a biologist, and the precomputed Atlas meant I could just look up my own VUS and inspect the outputs directly, without setting up a genomics pipeline myself. I found it really helpful for understanding my variant better. I can also see how easy it would be to over-interpret the output, but I still think there’s a lot of value in lowering the barrier for patients to inspect and understand their own variants.