Wednesday, April 2, 2014

Blogging My Genome, episode 5: the homozygous designated driver

This is the fifth in a series of blog posts about my genome, which I recently had sequenced through Illumina's Understand Your Genome program.

Last time, we manually examined some of my read mappings and called one A/A homozygous variant. I didn't choose this example at random, of course, but rather because it's an interesting variant with a fairly life-altering phenotype.