"Dammit Jim, I'm a doctor, not a bioinformatician!"
by Christophe Lambert, CEO & President
Do you ever feel like Dr. McCoy on Star Trek, where your job and expertise is to do x, but to achieve your goals you also have to do y and z, which you either don't want to do or don't have the skills to do? Genetic researchers are faced with this every day as they are expected to design experiments, develop methods, write software that will perform these methods, teach students, write grants, work towards tenure, make life-changing discoveries, follow statistical best practices, and, in their spare time, publish regularly. What are the causes and symptoms of this reality? And what is the effect these demands have on productivity?
I'll first summarize the topic at a high level and then drill down into the many facets of the systemic problems our field faces for research productivity. We'll then look at the obstacles to productive bioinformatics-driven genetic research through the lenses of skillset, mindset, toolset, and their interactions. Then we'll explore how facets of the academic toolset and mindset are at cross-purposes with reproducible research and explain how this, in turn, inhibits our practice of the scientific method and its concomitant productivity. Continue reading on "Our 2 SNPs" »
Summary and Q&A: "A Genome-wide Comparison of the Functional Properties of Rare and Common Genetic Variants in Humans"
by Jessica Vionas, Marketing Coordinator
The common disease-common variant hypothesis has established the foundation of SNP-basis genome-wide association studies for the last several years. However, with few strong associations found, researchers are beginning to consider the effects of rare variants through the burgeoning availability of DNA sequencing. Qianqian Zhu and Dongliang Ge, of the Center for Human Genome Variation at Duke University, and others recently published on this topic in the American Journal of Human Genetics in the article titled, "A Genome-wide Comparison of the Functional Properties of Rare and Common Genetic Variants in Humans." I recently sat down with Bryce Christensen, Golden Helix' Director of Services, to chat about the article.
Continue reading on "Our 2 SNPs" »