Here's what's been happening at Golden Helix
New eBook: Clinical Variant Analysis for Cancer

New eBook: Clinical Variant Analysis for Cancer
Written by Andreas Scherer, Ph.D
President & CEO

The clinical utilization of Next-Gen Sequencing data to diagnose cancer has taken off. Along with it, the need arose to standardize the interpretation and reporting of observed genomic variations. In this eBook, I give an overview of how the clinical diagnostic process is designed. In this context, I also explain how our products support clinicians in their decision making in concordance with the guidelines issued by the College of American Pathologists (AMP).... Download a copy

Top 5 Features of Sentieon
Introducing VSClinical AMP Guidelines: A Comprehensive Workflow for NGS Testing of Cancer
Presented by Gabe Rudy
VP of Product & Engineering


The individualized nature of tumors requires genomic testing for providing the best outcomes for patients. Next Generation Sequencing enables the detection of small mutations, copy number changes, and common fusions affordably and with high precision. However, the interpretation of these detected variants is arduous without a comprehensive analytical workflow that can incorporate all the bioinformatic and clinical evidence involved in following the AMP guidelines for the scoring and reporting of somatic mutations... Watch the Recording
We're headed to AMP Global 2019 & ESHG 2019!
Our Limited-Time Offer

We're upgrading all VSClinical _Cancer Add-On purchases to a 15-months license

To celebrate this exciting product enhancement, we will be upgrading all one-year license orders of VSClinical +Cancer Add-On to a 15-month license! This offer will be expiring on June 30th. Please visit our website here to learn more.
CEO Corner
New eBook: Clinical Variant Analysis for Cancer
The month of June was full of major events. First of all, we launched our new cancer workflow based on the AMP guidelines. This is an add-on within VSClinical that is targeting labs focusing on cancer analytics. We received very favorable press coverage from Bio-IT on this announcement. Secondly, we had a great time at ESHG 2019. During the three days of the exhibition, we had a record number of visitors at our booth. To no surprise, there was a strong interest in our new workflow, among other things. We are looking forward to a fun, active summer and will be back with new announcements prior to ASHG 2019.
Upcoming Webcast

Splice Site Algorithms for Clinical Genomics
July 10, 2019 | 12:00 PM Eastern

To fully interpret variants in the context of clinical genomics, as outlined by the ACMG interpretation guidelines, variants near canonical splice boundaries must be evaluated for their potential to disrupt gene splicing and thus be classified as a gene-damaging mutation. Five splicing methods have been canonized for this purpose in the clinical testing market: GeneSplicer, MaxEntScan, NNSplice, and Position Weight Matrix (PWM). Although these algorithms vary wildly in their performance characteristics, such as sensitivity and specificity, they are treated as black-box oracles on equal footing when being used by variant curators to classify variants.
 

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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.