New Analysis and Spreadsheet Manipulation Tools in SVS!

The script development team at Golden Helix has been hard at work these past few months and this means several new and exciting tools for our SVS customers!  The scripts featured in this blog post vary in function, from expanding the analytical options currently offered in SVS to transforming and editing spreadsheets.  As always, we invite you to visit our… Read more »

New Technical Support Bulletins (Forthcoming!), and a Known Bug with Filter Samples by Call Rate

As Product Quality Manager, I have been spending quite a bit of time lately thinking about the best way to communicate with our Golden Helix customers with regards to product quality and customer support issues. Most of our customers at this point have already seen several emails from me this year! Email is certainly one way to get an announcement… Read more »

Exaggerating your number of controls or being precise? “Variant not found in over 10,000 chromosomes from EVS…”

Reading through the last release of AJHG I saw a couple papers mention that the putative rare variant they were investigating was “not present in over 10,000 control chromosomes from the EVS”. My first reaction was, “What? Do they mean the NHLBI 5400 Exome Sequencing Project? They only have 5,400 exomes not over 10,000! I wonder if there is some… Read more »

Admixture in Reference Populations: 1000 Genomes Uses African Americans in African Reference Group

Today I ran into an interesting fact about how a prolifically used catalog of population controls classifies African Americans with potential impacts on research outcomes. The 1000 Genomes Project is arguably our best common set of controls used in genomic studies. They recently finished what was termed as “Phase 1” of the project, and they have been releasing full sets… Read more »

Dr. X Discovers a Better Way to Do Genetic Research Data Analysis

Bioinformatics is a serious thing. Petabytes of data that hold the truth to the genetic underpinnings of the human species, among many others, are generated and analyzed by the world’s leading scientists every year. Here at Golden Helix, we thought that there was plenty of room to add a little humor into the bioinformatics world. Meet Dr. X. He is… Read more »