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    This seams like a pretty simple interpretation of genetic makeup. Wouldn’t a well-funded genetic mapping startup have done this same analysis?

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      I think that 23andme is a well-funded genetic mapping startup. The problem for this guy was that 23andme was wrong. Not all code is going to be right all of the time—bugs are pretty much inevitable, because humans make mistakes. For this kind of bug, you might want to have better testing infrastructure to avoid this kind of unhappy experience though.

      If you’re saying, “Shouldn’t he have just gone to a genetic mapping startup, and if there isn’t one, why not?”

      Most genetic mapping startups have bootstrapping problems, because they don’t have that many copies of the human genome. So they need to also provide the service of sequencing your DNA. 23andme and Counsyl both do this, and then also provide the mapping service.

      There isn’t much of a use case for a mapping service separate from a sequencing service, unless you had a system to get deeper insight into a DNA sequence, or else it was very inexpensive/mandatory to get your DNA sequenced.

      About the only use case would be, “I was told I have(/don’t have) this disease, but I want a second opinion.” Which seems very niche.