Re:DNA sequencing progress has stagnated
by ben1040 on Tuesday July 30, 2019 @01:28PM
(#20567050)
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.
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.