February Newsletter

Golden Helix: Known for Sequencing Data Analysis and Its Work Culture 

Known for Sequencing Data Analysis and Its Work Culture

By CIO Views

Golden Helix’s mission centers around a fantastic cause. Precision medicine is at the core of the company’s efforts through its software that enables the healthcare industry to improve patient outcomes that can save and lengthen life. This gives every employee a fulfilling outlook on their day-to-day projects. Along with the purpose of improving healthcare on a big scale, employees enjoy a high quality of life thanks in part to the location of company headquarters. The small town of Bozeman, Montana boasts proximity to Yellowstone National Park, world-class ski resorts, and blue-ribbon trout streams. In fact, Forbes Magazine referred to Bozeman as the gateway to mountain adventure. After a fulfilling day at work, employees head to the bike trails around town or to...Read More

advanced somatic report customization

Advanced Report Customization in VSClinical

By Dr. Rana Smalling
Field Application Scientist

In our previous blog, we covered the highlights of our Advanced Report Customization in VSClinical webcast in the context of germline clinical reports. Now, we bring you the next of the series: somatic clinical reports. In the recent webcast, Advanced Report Customization, we covered a range of somatic-focused clinical reports, demonstrating how easy it is to create AMP guideline-based clinical reports and to bring in custom fields into the final clinical report...Read More

svs 8.9.1 release

SVS 8.9.1 Release

By Julia Love
Genomic Curator & Product Quality Manager

We would like to announce that a new version of SVS has been released! The headlining feature of the SVS 8.9.1 release was new functionality for Large Data Principle Component Analysis. A detailed description of this new feature can be explored in this recent blog post: Finding a Few Principal Components Quickly from Data with Thousands of Samples. However, there were other noteworthy fixes and features included in the latest SVS release, all of which...Read More




CEO Corner
New eBook: Clinical Variant Analysis for Cancer

We have hit the ground running this year and are seeing tremendous adoption of our solutions across the globe. Recently we were recognized by CIO Views as a top company to work for in 2022. We are being acknowledged for our continued success as an industry leader in NGS analysis and our dedication to fostering a healthy and supportive workplace. An award and recognition like this is a testament to the diligence of the Golden Helix team. Thank you to our partners, customers, and of course, Golden Helix team members; without all of you, this would not be achievable. This February, we also closed submissions for our Innovation Awards. Thank you to all of the customers that had submitted and shared their research with us. We appreciate your participation and the enthusiasm you have for our software. Winners will be chosen in the coming weeks, so be on the lookout to see who will be a 2022 Innovation Awards Winner. 

Recent Webcast

Integrating Custom Gene Panels for Variant Annotations

Presented by Dr. Rana Smalling, Field Application Scientists

The ability to use predefined sets of genes to isolate clinically relevant variants is an important aspect of clinical variant analysis. Golden Helix’s VarSeq product houses the tools, namely our Gene Panel Manager and Match Genes set of algorithms, that enable users to create and manage reusable gene lists within projects, incorporate the ACMG Secondary Findings v3.0 gene list for the reporting of incidental findings, make use of well-validated publicly available gene panels with published evidence of disease associations and create gene panels based on specific disorders or phenotypes of interest. In this webcast, we dive deeper into these capabilities, implementing our gene panel tools from the user’s perspective by focusing on two clinical use cases where custom virtual gene panels are particularly useful. 

Watch Now
Customer Success

Congratulations to all of our customers who have published this month! To highlight just a few:

Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families - Dirce Carraro & colleagues, A C Camargo Hospital / Published in PLOS ONE

Human germline biallelic complete NFAT1 deficiency causes the triad of progressive joint contractures, osteochondromas, and susceptibility to B cell malignancy - Anna Lehman & colleagues, University of British Columbia / Published in medRxiv

About Golden Helix

Golden Helix has been delivering industry-leading bioinformatics solutions for the advancement of life science research and translational medicine for over 20 years with 1,000s of users around the world. Their innovative technologies and analytic services empower scientists and healthcare professionals at all levels to derive meaning from the rapidly increasing volumes of genomic data produced from NGS sequencers and microarrays. With their solutions, hundreds of the world's top hospitals, testing labs, pharmaceutical, biotech, and academic research organizations can harness the full potential of genomics to identify the cause of disease, improve the efficacy and safety of drugs, develop genomic diagnostics, and advance the quest for personalized medicine.