Category Archives: Big picture

Stop Ignoring Experimental Design (or my head will explode)

Stop Ignoring Experimental Design (or my head will explode)

Download this blog post as a PDF. Over the past 3 years, Golden Helix has analyzed dozens of public and customer whole-genome and candidate gene datasets for a host of studies.  Though genetic research certainly has a number of complexities and challenges, the number one problem we encounter, which also has the greatest repercussions, is born of problematic experimental design…. Read more »

Missing Heritability and the Future of GWAS

“Where is the missing heritability?” is a question asked frequently in genetic research, usually in the context of diseases that have large heritability estimates, say 60-80%, and yet where only perhaps 5-10% of that heritability has been found. The difficulty seems to come down to the common disease/common variant hypothesis not holding up. Or perhaps more accurately, that the frequency… Read more »

Rising Above Uncertainty; Increasing Clinical Yield in Array-Based Cytogenetics

Download this blog post as a PDF. As Andy Ferrin and I drove the five hour car ride home from a cytogenetics conference, we had a lot of time to reflect on the persistent themes we heard in presentations and dialog among conference attendees. Taking somewhat of an outsider view, we traced each complaint, each sigh of frustration, and the… Read more »