Category Archives: News, events, & announcements

VarSeq Updated with CNV Annotations, CNV PhoRank and Region Assessment Catalogs

VarSeq Updated

VarSeq Updated with CNV Annotations, CNV PhoRank and Region Assessment Catalogs This year we have released multiple advances to support CNV analysis in VarSeq, expanding our target region based VS-CNV caller to handle exomes and low-depth genomes as well additional supporting algorithms like calling Loss of Heterozygosity regions. To top this off, VarSeq 1.4.7 has been shipped with many expanded… Read more »

Goodbye snow … hello Orlando!

ASHG 2017

We look forward to seeing you all at ASHG 2017! Golden Helix is leaving the snowy mountains of Bozeman, MT and heading for the sunny streets of Orlando, FL to attend the 2017 American Society of Human Genetics Conference (ASHG)! We’re excited to be returning for the 12th year in a row and are looking forward to seeing everyone there…. Read more »

Upcoming Webcast: Comprehensive Clinical Workflows for Copy Number Variants in VarSeq

Tumor Sequencing

September 27, 2017 12:00 PM, EDT While Copy Number Variants are important to detect and interpret in many clinical genetic tests, labs have been without a comprehensive solution that integrates the annotating and reporting of high-quality CNV alongside their existing NGS variants. Golden Helix has developed and validated with our clinical partners a specialized NGS-based CNV caller capable of detecting… 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 »