Category Archives: Clinical genetics

“Precision Medicine”: Moving Next-Generation Sequencing into the Clinic Today

Kellie Carey discussing her treatment with her doctor. Image by Jesse Neider for The Wall Street Journal Just a few weeks ago, the case of Kellie Carey made it to the front page of the Wall Street Journal. Initially, her prognosis in 2010 was very dire. Three months. Lung Cancer. As I write this article, Ms. Carey is still alive… Read more »

GATK is a Research Tool. Clinics Beware.

In preparation for a webcast I’ll be giving on Wednesday on my own exome, I’ve been spending more time with variant callers and the myriad of false-positives one has to wade through to get to interesting, or potentially significant, variants. So recently, I was happy to see a message in my inbox from the 23andMe exome team saying they had… Read more »

To Find a Killer Variant: Successes and Challenges on the Journey to Mass Adoption of NGS in the Clinic

Recently, I have been spending some time analyzing real patient data. I’m preparing for a webcast I’ll be giving in which I will walk through the process of replicating the findings of Dr. Gholson Lyon‘s study on the novel disease diagnosis he named Ogden Syndrome. Being so close to data that comes directly from clinical settings got me thinking about… Read more »