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by ben1040 2519 days ago
23andMe ran a microarray analysis, which probes your genome at a specific set of locations.

If you want to know how your genome differs versus what's called the "reference genome," then you'd need a whole-genome sequence. That process shards up your genome, sequences it, aligns the pieces back to the human reference, and then calculates a "consensus" that represents the software's best guess as to how your genome relates to the reference.

Then they could provide you with a diff of the consensus with respect to the reference, which would probably be distributed to you in a VCF file (variant call format).

This process is the one that costs more money versus 23andMe's $99.