December Newsletter

Golden Helix 2022 

What to Expect in 2022

By Dr. Andreas Scherer
Chief Executive Officer

Happy New Year to all! I hope that you were able to enjoy quality time over the holidays with family and friends. It is time to begin discussing our plans for the new year again, but I would first like to review a few highlights from 2021 that laid the foundation for Golden Helix’s future. Golden Helix had a resoundingly successful year with many positive takeaways; below are just a few key highlights from an overwhelmingly momentous year. We were named on the Inc. 5000 list of Fastest-Growing Private Companies for the 3rd consecutive year...Read More

How to Create Your Own CNV Frequency Catalog

How to Create Your Own CNV Frequency Catalog

By Dr. Rana Smalling
Field Application Scientist

Global population frequency catalogs like 1kG Phase 3, gnomAD, DGV, and others are excellent resources for identifying rare variants in your copy number variant (CNV) analysis. However, they are not exhaustive, and the reality is a lot of variants that are missing from global population frequency catalogs are still common variants. At the same time, CNVs that are identified by even robust callers can turn out to be artifacts. Therefore, it is extremely useful to be able to add another layer of variant tracking and...Read More

What to Expect From GnomAD v3.1.2

What to Expect From GnomAD v3.1.2

By Julia Love
Product Quality Manager

The Broad Institute’s release of the latest version of gnomAD, v 3.1.2, which is now available for use as an annotation source in your SVS or VarSeq projects. For VarSeq users, I also want to point out that gnomAD v3.1.2 can also be used as a population frequency in VSClinical! You can add gnomAD 3.1.2 to your VarSeq projects by going to the Add Icon > Variant Annotation > then begin to type gnomAD into the annotation search bar. If gnomAD Genomes 2.2.1 was already incorporated into your project you can update to the new version within the project by clicking on the blue update icon in the top right-hand corner...Read More

CEO Corner
New eBook: Clinical Variant Analysis for Cancer

2021 laid a great foundation for us and we have developed ambitious goals for 2022. In the new year, we are going to continue to enhance our clinical workflows for cancer and hereditary diseases. In addition, our team will also be focusing on the scalability, efficiency, and performance of our software so that our customers can handle the steadily increasing data volumes they are experiencing. We also have expectations for increased regulations in the NGS analytics space, so we are beginning preparations for these requirements. As always, we will continue to ensure that Golden Helix is a stimulating and rewarding work environment that encourages ingenuity so that we can continue to provide the best for our customers. Please read this blog where I have provided more information on what you can expect from us moving forward. I greatly appreciate your support and am looking forward to another great year together.

 Previous Webcast

Large Scale PCA Analysis in SVS

Presented by Gabe Rudy, Vice President of Product and Engineering

One of the most popular methods for determining population structure in SVS is Principal Component Analysis. In this webcast, we review the fundamentals of this methodology, as well as how we have advanced the state of the art by implementing a new “Large Data PCA” capability in SVS, handling over 10 times as many samples as previously possible at a fraction of the time. Watch as we cover:  

  • A review of SVS association testing and trait analysis capabilities
  • Usage of Principal Component Analysis to discern population structure
  • Scaling PCA beyond the limitations of computer hardware.
  • Other SVS improvements based on ongoing feedback from the user community

SVS continues to move forward as a flexible and powerful tool to perform genotype and Large-N variant analysis. We hope you enjoy this webcast highlighting the exciting new features and select enhancements we have made.

Watch Now
Customer Success

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

Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype–phenotype correlations - Mateja Smogavec & colleagues, Medical University of Vienna / Published in European Journal of Human Genetics

Mutations affecting the N-terminal domains of SHANK3 point to different pathomechanisms in neurodevelopmental disordersPopulation-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing - Emily Wang & colleagues, Institute of Integrative Biology, University of Liverpool / Published in Scientific Reports

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.