Rare Variants

My article from the October issue of BioTechniques is out! I reported this one back in August right as I was moving to Madison. It is exciting to finally be able to see it in print. It is also available online, which means you should be reading it right now.

Diamonds in the Rough: Rare Variants Scratch the Surface

Many thanks to the scientists who spent so much time talking to me about rare variants, and to the editorial staff at BioTechniques for editing, and editing, and editing some more. 

Posing with the October issue!

Before you dive into the article, I'm sure you are asking yourself what is a rare variant, and why do I care? Well - rare variants are specific mutations in the genome that only happen in a few individuals, in some cases even just a single person. These variants are important because any time that something is amiss in your genome, it has an effect on you. At times these effects include causing disease. So, studying rare variants can tell doctors important things about disease and possibly help come up with new treatments. But, studying these rare variants is extremely difficult. To learn why, read the article!