May Newsletter

 

Summer 2021 Software Specials

Summer is quickly approaching, which heralds the return of our summer 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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 Following the AMP Guidelines with VSClinical: Part I

Case Study - Hannover Medical School
By Dana Odenbeck
Sales & Marketing Associate

Dr. Auber is the team leader for the molecular genetic diagnosis of hereditary diseases at the Institute for Human Genetics at Hannover Medical School (MHH). MHH is one of the largest hospitals in northern Germany, with one of the largest outpatient clinics for individuals and families dealing with hereditary cancer and predisposition syndromes. Dr. Auber was in high school when… Read More

Automating & Standardizing Your NGS Workflow

VS-CNV Updates in VarSeq v2.2.3

By Eli Sward, Ph.D.,
Field Application Scientist Manager

Golden Helix has just released VarSeq v2.2.3. In this update, there are notable changes that can improve CNV calling capabilities covered in this webcast. The topics discussed included: Accounting for GC content Improvements to CNV quality flags Using target filtering Updates to the CNV sensitivity and precision settings This blog post will elaborate on these capabilities and demonstrate how they…

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CEO Corner
New eBook: Clinical Variant Analysis for Cancer

May was a busy month for our team. We kicked off our latest development cycle with an updated eBook on cancer analytics using VSClinical. You can download a free copy on our site here. Expect to see more announcements on improvements we are working on, specifically in the cancer space, leading up to an exciting release this fall. Additionally, like every year around this time, we are starting the summer with attractive software bundles for our VarSeq suite. Full details on these offers can be found here.

Recent Webcast

High Precision Exome CNV Detection with VS-CNV  
May 5, 2021 

The detection of CNVs using exome sequencing data presents unique challenges that require specific considerations and strategies.  Over the past several months, our team has made numerous improvements to our CNV calling capabilities on exome sequencing data. In this webcast we will cover these improvements and provide guidance on developing best-practice workflows for CNV calling from whole exome coverage data.

Golden Helix is unique in our support for all stages of the CNV calling and interpretation process and we are constantly striving to improve our CNV analysis capabilities. Come check out this, as well as many other Golden Helix webcasts on-demand located on our site!

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Customer Success

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

Bi-Allelic Pathogenic Variations in MERTK Including Deletions are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa - Cathrine Jespersgaard, Lisbeth Birk Moller & Colleagues, University of Copenhagen / Published in Genes

A Mutational Repertoire of Uterine Sarcomas and Carcinosarcomas in a Brazilian Cohort: A Preliminary Study - Dirce Carraro & Colleagues, A.C. Camarago Hospital, Brazil / Published in Clinics

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.