June Newsletter

 

Summer 2021 Software Specials

Golden Helix will be offering a limited number of deals through June 30th, 2021. We have an additional opportunity for those who are planning long-term and have flexibility in their current budget. If you can commit to a two-year purchase with payments upfront, then you will receive a third year at no cost…

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Golden Helix’s Next-Gen Sequencing Data Analysis Solutions Explained

Golden Helix’s Next-Gen Sequencing Data Analysis Solutions Explained

By Darby Kammeraad
Field Application Scientist

Next-gen sequencing (NGS) comprises many sophisticated steps that are often compressed into three major sections: library prep, sequencing, and data analysis. Obviously, the goal is to simplify each of these steps, but more often than not, there is a need for multiple tools to complete each one. Regarding the data analysis, Golden Helix seeks to provide simple yet comprehensive solutions… Read More

Selecting Clinically Relevant Transcripts in VarSeq

Selecting Clinically Relevant Transcripts in VarSeq

By Gabe Rudy
VP of Product & Engineering

One of the many tricks of encoding so much functionality into so little space in eukaryotic genomes is the ability to produce multiple distinct mRNAs (transcripts) from a single gene. While one transcript is often the dominant one for a given tissue or cell type, there are, of course, exceptions in the messy reality of biology. It doesn’t take many…Read More

PhoRank 2.0 Webcast Highlights

Highlights from our PhoRank 2.0 Webcast

By Nate Fortier, Ph.D
Director of Research

Thank you to those who attended our recent webcast, “PhoRank 2.0: Improved Phenotype-Based Gene Ranking in VarSeq”. For those who could not attend, you can find a link to the recording here. This webcast covered upcoming improvements to the PhoRank phenotype-based gene ranking algorithm based on literature published in the years since the algorithm’s development. The PhoRank Algorithm When performing… Read More

 

 

CEO Corner
New eBook: Clinical Variant Analysis for Cancer

It was a great first half of 2021 for our company and witnessing the various markets we operate in return to a more normal way of conducting business. It seems our world is making good progress in dealing with the remaining challenges of the pandemic, and for that, we are grateful. We have been continuing to innovate our software; our recent webcast highlighted improvements to our PhoRank algorithm. We are also working on additional upgrades to the VarSeq Suite, which are currently undergoing testing. We are looking forward to releasing these new updates in the fall and finishing what seems to be already a strong 2021. Of course, we will keep you updated leading up to our release, but until then, I wish you an enjoyable summer with your family and friends!

Upcoming Webcast

Reduce Turn-Around with Enhanced Cancer Annotations and CancerKB Updates
July 21, 2021

Annotation sources are constantly evolving, sometimes quite literally overnight. This is especially true in the case of cancer databases. These ever-evolving annotation sources, coupled with increasing research publications, make it difficult to do variant analysis with up-to-date scientific knowledge.  With the resources available to an individual clinician or single lab, this may even prove impossible. Fortunately, VSClinical provides access to the most current clinical annotation sources - automating scoring and interpreting variants according to the most recent ACMP and AMPO guidelines...

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Customer Success

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

MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease - Marina Kerr, Stacey Hume & Colleagues, University of Calgary - Published in Molecular Genetics and Metabolism

Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive - Guido Vogt, Sarah Verheyen & Colleagues, Charité Universitätsmedizin Berlin, Medical University of Graz - Published in Journal of Medical Genetics

Read the full list of featured articles published this month on our blog!

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.