Category Archives: News, events, & announcements

2017-18 Abstract Competition Has Begun!

         December 5, 2017
Call for Abstracts

Golden Helix strives to enable precision medicine by developing powerful software to support researchers with complex analysis. One of my favorite events of the year is our abstract competition. This competition allows us to help our community by recognizing innovative ways to conduct a genomic analysis. I am pleased to announce that our 2017-18 Abstract Competition has officially begun! We would… Read more »

End of Year VarSeq Bundles

         November 28, 2017

This week we’re featuring several VarSeq bundles that are part of our end of year pricing specials! VarSeq CNV PowerPack – $15,995 We’ve made tremendous progress integrating CNV analytics capabilities into VarSeq this year. The PowerPack bundle is a great solution for those who are interested in combining SNV and CNV analysis. SVS-VarSeq Bundle – $7,995 If you’re a researcher or… Read more »

Our End of Year Bundles Are Back!

         November 21, 2017

In case you haven’t heard the big news … our end of year bundles are back by popular demand! There’s a little something for everyone so if you’ve had your eye on one of our products now is the time to buy! SVS Single-User License – $2,995 Wouldn’t it be great to be able to easily perform complex analyses and visualizations on… Read more »

Reflecting on ASHG 2017

         October 26, 2017
ASHG 2017

We’ve returned from another successful year at ASHG and had an incredible time. I find the conference to be a terrific opportunity to connect with our customers, partners, and friends in the industry. This year’s Presidential Symposium was a true delight featuring a discussion of global health and genomics between two absolute legends in the health and science world: Bill Gates,… Read more »

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

         October 19, 2017
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 as additional supporting algorithms like calling Loss of Heterozygosity regions. To top this off, VarSeq 1.4.7 has been shipped with many… Read more »

Goodbye snow … hello Orlando!

         October 17, 2017
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

         September 14, 2017
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

         September 7, 2017
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 from… Read more »

Secondary Analysis 2.0 eBook

         September 5, 2017

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 »

Upcoming Webcast: Advantages of VarSeq’s Annotation Capabilities

         August 31, 2017
genetic variants

September 13, 2017 12:00 PM, EST This month we’re branching out and covering a topic we’ve never explored before – annotation capabilities! Darby Kammeraad, Field Application Scientist at Golden Helix, will be giving us some insight into the advantages of VarSeq’s capability with annotations. The number of annotation topics to cover are seemingly limitless. In this webcast, we will focus… Read more »

UCLA Health Diagnoses Long Running Medical Mystery

         August 3, 2017
Recent Customer Publications

We don’t just like hearing what our clients are up to … we love bragging about what they’re doing to the world as well! This week we’re showcasing Dr. Stanley Nelson, and his team at UCLA Health, who used next-generation sequencing and our VarSeq software to help diagnose a child’s long running medical mystery. Audrey Lapidus knew there was something… Read more »

Webcast: New Enhancements – GWAS Workflows With SVS

         July 27, 2017
genetic variants

We are dedicating our August webcast to explain the latest and greatest enhancements with GWAS workflows in SVS. Below you can find further details and registration information. We hope you can attend! Wednesday, August 9th, 2017 12:00 PM EST In this webcast, we will focus on the recent improvements to our research product SNP & Variation Suite. Over the past… Read more »

GHI’s Annual T-Shirt Design Competition

         July 5, 2017
T-Shirt Design Competition

We’re gearing up for ASHG and kicking off our annual T-Shirt Design Competition! This one goes out to all the clever, witty genomic jokesters out there … here’s your chance to cash in on those DNA punchlines you’ve been practicing! Here’s how the T-Shirt Design Competition works: Draw it out or write it down; we accept either illustrated or written designs. Email… Read more »

Webcast: An Exploration of Clinical Workflows in VarSeq

         June 29, 2017

Our July webcast presentation will be focused on clinical workflows in VarSeq. We wanted to share the full details with you and hope you are able to attend! Wednesday, July 12th 12:00 PM EST This month’s webcast is a VarSeq exploration, featuring several example workflows and helpful features in VarSeq that can be used in the clinic. We will discuss… Read more »

Understanding Your GWAS Signal with LD Scores

         June 27, 2017
Genome-Wide Association Studies

When studying complex diseases that may have multi-genic contributions from across the genome, it is not uncommon to see what may appear like elevated correlation between your trait or other test variable and the SNPs across the genome. The problem is at first glance you won’t be able to tell if this is due to a population structure in your… Read more »

CNV Caller Updates and More with VarSeq 1.4.5

         June 22, 2017
Genotype Imputation

We have been heads down doing the detailed and careful work to improve our CNV caller algorithm in the past three months since our we launched our Exome capable CNV caller and are very excited about the massive step forward we have made with the VarSeq 1.4.5 release. Additionally, we have added the all new Whole Genome large-event caller capable… Read more »

Calling Cytogenetic CNVs from Shallow Whole Genomes

         June 21, 2017
low read depth

Low read depth? Great! We are excited to introduce our new CNV calling algorithm for low and ultra-low read depth Whole Genome Sequencing (WGS) data. This algorithm is designed to call large cytogenetic events with high confidence from low read depth whole genome data, with as few as one million aligned reads or 0.02x coverage. The low sequencing cost of… Read more »

Webcast: Golden Helix’s End-to-End Solution for Clinical Labs

         May 25, 2017
User's Perspective

We are ending the first half of the year with a webcast featuring our entire clinical software stack: Golden Helix’s End-to-End Solution for Clinical Labs. This webcast is scheduled for Wednesday, June 7th at noon EST, and it’s not one you’ll want to miss! Here are the full details: Wednesday, June 7th 12:00 pm EST In this webcast we will provide an… Read more »

ESHG 2017 – Heading to Copenhagen!

         May 22, 2017
ESHG 2017

In just a few days, Golden Helix will arrive in Copenhagen, Denmark to attend the 2017 European Society of Human Genetics Conference (ESHG). We are excited to be returning to ESHG for the second year in a row! It’s always a pleasure to see our European customers and meet some new faces in the community. This year the Golden Helix team will be… Read more »