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Comment by armanj | Hacker News Reader

one main marketing leverage of 23andMe, AncestryDNA, etc are fulfilling the curiosity of people who want to know which part of the world their genes are from. I guess that dataset should be preparatory.

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Problem with those providers - they only check 700K positions out of 3 billion and there is no mapping quality or allelic depth data in those dataset and this is critical for assessing whether the detected variant is a false positive or real.

It's not suitable for health investigations since most of DNA is not sequenced and genotyping technology is known to produce high rate of false positive for rare mutations.

(I'm the solo-founder of Gene Inspector Pro, mentioned in the blog post). AMA. :)

It's a bit ironic, since FTDNA and MyHeritage (which uses FTDNA's lab) have switched to NGS now, so they presumably could deliver those notorious "health insights", at least better than 23andMe. But they aren't in that market, and 23andMe shows no inclination to switch. They're probably licking their wounds after the user hack and buyout fiasco.

Need to check if they do 30x read depth or much less - ancestry doesn't need 30x, so companies may just do 2-3x reading, which is not enough for anything health-related due to high chance of errors.

MyHeritage uses 2x. FTDNA uses a custom targeted enrichment panel, so high accuracy in selected regions important for genealogy.

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