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Golden Helix Newsletter
 
Secondary Analysis 2.0 eBook Version 2
Top 10 Analytics Solution Providers - Pharma Tech Outlook
by Andreas Scherer, Ph.D.
President & CEO


Through innovative products, Golden Helix has been simplifying the clinical workflows and genomic testing for numerous labs. For instance, Prevention Genetics, a clinical testing laboratory offering genetic and DNA banking services with the largest menu of gene sequencing tests, sought a solution for analysis of gene panels. The deployment of Golden Helix�s VS-CNV not only helped the client in exceeding chromosomal microarrays with the highest probe density but also streamlining the process of annotating and filtering variants obtained from next-generation sequencing pipeline. Eventually, Prevention Genetics succeeded in optimizing clinical testing.

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New & Improved ClinVar Annotations
Functional Predictions & Conversation Scores in VSClinical
by Nathan Fortier, Ph.D
Senior Product Engineer


If 3 of 4 of the splicing algorithms predict a variant to be disruptive, then we recommend PP3 regardless of what�s predicted by the functional prediction and conservation scores. If the conservation scores and functional prediction algorithms are both consistent with deleterious effect, then PP3 is recommended regardless of the splice site algorithms. In this way, we treat different variant effects as isolated types of computational evidence. Only agreement amongst algorithms of the same type is required to recommend PP3.

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Abstract Competition Winners
VSClinical Special Pricing

Ends June 30, 2018

We will be issuing a 15-month license for all VSClinical annual subscriptions made in the month of June.

If you're interested in learning more about this offer or VSClinical, please give us a call at (406)585-8137 or send us an email here.
   CEO Corner
Andreas Scherer
This month we revealed our newest product, VSClinical, which will help clinical users assess the clinical relevance of a particular variant. This product�s development was funded by grant 1R43GM128485-01. As the PI of this grant, I would like to personally thank the NIH for their generous support of our work in this field. VSClinical is officially available for commercial use! We want to show our gratitude towards those clients who are adopting this product right away, thank you. All customers who purchase VSClinical in the month of June will be issued a 15-month license for the price of the annual (12-month) subscription fee. The Golden Helix Team is very excited about this new product� and what�s right around the corner for us. We will be releasing a few more announcements later this year � so, stay tuned!
 
  Upcoming Webcast

Automating the ACMG Guidelines with VSClinical

June 6, 2018 | 12:00 PM Eastern


Register for the webcast

Clinical Genetic testing requires a complex analysis using the totality of our knowledge about the clinical relevance of a variant and a gene. This includes bioinformatic evidence as well as clinical evidence. The ACMG Guidelines provided a framework in which to score variants based on this evidence, and while some of those scoring criteria require close consultation of the clinical context for a given patient, much of it can be automated. In this webcast, we review how VSClinical automates the ACMG scoring guidelines while integrating the collective lab expertise from previously classified variants and preferences about genes.
 
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About Golden Helix
Golden Helix� is a global bioinformatics firm founded in 1998. Our largest outside investor is GlaxoSmithKline who invested early on into the company. We develop and sell an industry leading clinical solution that supports the analysis of sequencing data and the creation of clinical reports. Clinicians and researchers worldwide trust our solution. Over all these years we have accumulated a significant customer base conducting business with over 350 organizations globally with thousands of users leveraging our various analytics products. Our customers fall into five categories: Large Hospitals, Genetic Testing Labs, Pharmaceutical companies, major research organizations, and government organizations here in the US and internationally. Our work his referenced in over 1,200 publications such as Science, Nature and Nature Genetics.
 



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