July Newsletter

Golden Helix named to 10 Innovative Biotechnology Solution Companies for 2021 

Golden Helix named to 10 Innovative Biotechnology Solution Companies for 2021

By Delaina Hawkins
Director of Operations & Marketing

We are honored to be selected as MirrorReview’s 10 Innovative Biotechnology Solution Companies for 2021. This award would not be possible without the incredible support from our customers and partners. Thank you to our entire community! If you are interested in reading our story, and why we were selected for this award, you can access the story below... Read More

Selecting Clinically Relevant Transcripts in VarSeq

Leveraging expert-curated variant interpretations using VSClinical

By Nate Fortier, PhD
Director of Research

This blog post covers an exciting new VSClinical feature in the upcoming VarSeq release. The ACMG Previously Interpreted Variants feature allows users to integrate databases of expert-curated variant interpretations into their VSClinical workflows. These data sources store variant-level interpretation data, including the classification, associated disorders, interpretation text, and scored criteria for each variant, along with notes providing a justification…Read More

PhoRank 2.0 Webcast Highlights

Merged gnomAD Genomes and Exomes Annotation Source

By Eli Sward, PhD
Field Application Scientist Manager

The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects (1). We have covered this annotation in-depth in other blog posts, but this resource contains over 125,000 exome sequences and around 16,000 whole genome… Read More

 

 

CEO Corner
New eBook: Clinical Variant Analysis for Cancer

We are so humbled to receive a recent award from MirrorReview as “Top 10 Biotechnology Solution Providers of 2021”. I want to thank my team for the outstanding work we are doing in the field of Precision Medicine. Additionally, I would like to extend my “Thank You” to our customers and partners who have supported us in all these years. Please check our blog for future updates coming soon; we have a lot of good news to share in the next few months!

Recent 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...

Watch the Recording
Customer Success

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

Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1 - Dorte Lildballe & Colleagues, Aarhus University Hospital / Published in European Journal of Medical Genetics

Contribution of multiple inherited variants to autism spectrum disorder (ASD) in a family with 3 affected siblings - Ying Qiao & Colleagues, University of British Columbia / Published in Genes

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.