Category Archives: Big picture

Mendelspod Podcast with Dr. Lambert: Looking at the Big Picture of Bioinformatics

Recently, Dr. Christophe Lambert joined the esteemed Theral Timpson over at Mendelspod to talk a bit about the big picture of bioinformatics. This 37 minute podcast references a recent blog post by Christophe on Illumina competing with its customers, the notion that if the end user isn’t buying that no one is selling, and learning from our GWAS mistakes. One… Read more »

Is Illumina Aiming to Compete with its Customers?

In a recent GenomeWeb article by Tony Fong, “Sequenom’s CEO ‘Puzzled’ by Illumina’s Buy of Verinata, Lays out 2013 Goals at JP Morgan,” Harry Hixson, Sequenom’s CEO, expresses puzzlement over why its major supplier, Illumina, is acquiring a Sequenom competitor in Non-Invasive Prenatal Testing (NIPT), and thus apparently competing with one of its major customers. In a JP Morgan interview… 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 »

Learning vs. Doing (or why that Ph.D. took 10 years)

What prevents scientists from being more productive and if we knew, could we do anything about it? I’d like to look at an often overlooked, but huge productivity inhibitor — bad multitasking. Many people put “excellent multitasker” on their resume as a badge of honor. We laud the efficiency of a good multitasker — they are rarely idle — someone… Read more »

Have We Wasted 7 Years and $100 Million Dollars on GWAS Studies?

Type 2 Diabetes, Rheumatoid Arthritis, Obesity, Chrohn’s Diseases and Coronary Heart Disease are examples of common, chronic diseases that have a significant genetic component. It should be no surprise that these diseases have been the target of much genetic research. Yet over the past decade, the tools of our research efforts have failed to unravel the complete biological architecture of… Read more »