November Newsletter

Top Things You Wish You Knew When Getting Started with VSClinical 

Top Things You Wish You Knew When Getting Started With VSClinical

By Jennifer Dankoff
Field Application Scientist

As a newer member of the Golden Helix FAS Team I, like many of our customers, went through a phase of learning the ins, outs, and shortcuts of clicking around the program. In an effort to expedite new users coming up to speed, or to teach some tricks to experienced users, I’ve compiled a list of the top things I wish I knew when getting started with this mighty program... Read More

Breaking Down ACMG CNV Guidelines in VSClinical

Breaking Down ACMG CNV Guidelines in VSClinical

By Rana Smalling
Field Applicaiton Scientist

In February 2020, the American College of Medical Genetics (ACMG) and the Clinical Genome Resource (ClinGen) published a joint consensus on standards for the interpretation and reporting of copy number variants (CNVs) ranging from large CNVs spanning multiple genes to small intragenic events1. The guidelines consist of over 80 different criteria which are arranged into five distinct...Read More

Running VSPipeline from a Docker Container

Running VSPipeline from a Docker Container

By Gabe Rudy
Vice President of Product & Engineering

As a lab or group scales the number of NGS samples analyzed, it is important to automate the sample analysis pipeline from the sequencer to the point where it is ready for a variant scientist or lab personnel to follow the interpretation workflow and draft a clinical report. VSPipeline leverages the core VarSeq capability to create reproducible test-specific workflows through project templates. It allows for the automation of the computationally expensive steps to prepare the NGS variant data for... Read More

 

 

CEO Corner
New eBook: Clinical Variant Analysis for Cancer

I am happy to announce that we have released VarSeq 2.2.4 this month. We are so grateful to receive many accolades this month as well. We have been recognized as "One of the Fastest Growing Biotech & Farma Companies" in 2021 by Business APAC, a "Top 10 Biotech Solutions Provider" by Medhealth Outlook, and lastly we were awarded the "Best Life Science Research Bioinformatics Solutions of 2021 Award" by Global Health & Pharma Awards. I would like to personally thank my team for their outstanding work in the field of biotech solutions.  I would also like to extend a thank you to our customers and partners for their continued support over these years, I greatly appreciate it and cannot wait to bring you even more industry-leading solutions in the future. 

Upcoming Webcast

Advanced Report Customization in VSClinical

Dec. 8, 2021, 12pm EST

Presented by Dr. Rana Smalling and Jennifer Dankoff, Field Application Scientists

This upcoming webcast will take you through our standardized VSClinical Reports, then dive into the greater realm of customized reporting available to our Golden Helix customers.

We will be covering the following in the webcast:

  • Example reports that ship directly with the software for single sample, family, germline, and somatic reporting
  • Showcase various examples of other customized reports to show our viewers potential customization capabilities
  • Exposure to custom JavaScript reporting in machine-readable formats as opposed to the standard Word or PDF-based reporting suitable for the patient
Save Your Seat
Customer Success

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

Analyses of oligodontia phenotypes and genetic etiologies - Jan Hu & colleagues, University of Michigan School of Dentistry / Published in International Journal of Oral Science

Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders - Linda Reis & colleagues, Children's Research Institute at Medical College of Wisconsin / Published in Human Molecular Genetics

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.