Why You Should Care About Segmental Duplications

My work in the GHI analytical services department gives me the opportunity to handle data from a variety of sources.  I have learned over time that every genotyping platform has its own personality.  Every time we get data from a new chip, I tend to learn something new about the quirks of genotyping technology.  I usually discover these quirks the… Read more »

Is Free Software Really Free?

The prevalence of open-source bioinformatic tools in the genetic research space is enormous. According to The North Shore LIJ Research Institute, there are over 500 genetic analysis software packages – the great majority of which are free – as of August 2010. Open-source tools are incredibly important in genetics. They allow new methodologies to be created and expanded. They tie… Read more »

Guest Post: Stepping Outside My Open-Source Comfort Zone: A First Look at Golden Helix SVS

I’m a huge supporter of the Free and Open Source Software movement. I’ve written more about R than anything else on my blog, all the code I post on my blog is free and open-source, and a while back I invited you to steal my blog under a cc-by-sa license. Every now and then, however, something comes along that just might be worth paying… Read more »

How SVS Treats Gender in Calculating Genotype Statistics

Recently several customers have asked how SNP & Variation Suite (SVS) treats gender when calculating genotype statistics. In this blog post, I will cover SVS’ current capabilities, what we have available through Python scripts, and what is coming in the near future. We thank all of our customers who have inquired about these capabilities and have given us valuable feedback… Read more »