Tag Archives: Golden Helix

New VarSeq Single Exome Demo Project

single exome

As VarSeq is quickly becoming the go-to variant analysis software for tertiary analysis, we want to give our readers the opportunity to examine completed projects from start to finish. As an addition to the currently available demonstration projects, we are pleased to provide users with a Single Exome Analysis example project. To access this project simply click here to download… Read more »

Annotation Education Series: Clinical Assessment Tracks

Clinical Assessment Tracks Golden Helix provides a large catalog of annotation sources for our research and clinical clientele. Making these public data repositories available to all our users is no easy task. As Cody Sarrazin mentioned in his blog post, annotation curation is a complex data science pipeline. This process aggregates data from many disparate sources and normalizes it into… Read more »

Sentieon’s Secondary Analysis Tools Explained

Sentieon's Tools

We find ourselves talking a lot about our partnership with Sentieon … and more specifically, extolling the powerful, comprehensive genomic data analysis solution we are now able to offer clients. Sentieon’s suite of secondary analysis tools made a significant improvement in runtime over BWA-MEM, GATK, Mutect, and MuTect2 while providing deterministic and identical results. Here are two fantastic white papers that… Read more »

The votes are in … 2017 T-Shirt Design Competition Winners

T-Shirt Design Competition

  We were incredibly impressed with the amount of creativity the GHI Community delivered for this year’s T-Shirt Design Competition! A big thank you to everyone who participated. We are pleased to announce our three prize winners: First Place – James Hadfield, PhD, Head of Genomics Core at the University of Cambridge Second Place – Pia Pulido, High School Student… Read more »

Secondary Analysis 2.0 eBook

      Andreas Scherer    September 5, 2017    No Comments on Secondary Analysis 2.0 eBook

Next-Gen Sequencing promised to be the ultimate paradigm when it comes to genetic research and clinical testing since it contains the complete genetic information. When it comes to the current reality in testing labs, there are still a number of additional testing paradigms used in an analysis, specifically, copy number variations. Among these, labs still widely use Chromosomal Microarrays and… Read more »