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Most of 23andMe's customers don't really get sequencing. They get genotyped on a SNP chip, which only tells you about a million or so positions (out of ~3.2 bil
by chrisamiller 14y ago
Most of 23andMe's customers don't really get sequencing. They get genotyped on a SNP chip, which only tells you about a million or so positions (out of ~3.2 billion).
The other product that 23andMe is starting to offer is exome sequencing, where they analyze just the coding regions of the genome (around 1% of the total content). This sort of analysis can be enormously useful and can provide much information, but will miss variations in non-coding regions. It also has limited ability to detect structural variations, where a chunk of DNA gets moved around, deleted, or duplicated.
What they did here was whole genome analysis, coupled with sequencing the RNA products of gene expression. This turned out to be enormously important, because the main driver of his cancer turned out to be over-expression of a gene.