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Golden Helix Newsletter
 
New ebook: Clinical Variant Analysis
Golden Helix Receives NIH-SBIR Phase 2 Grant 2R44 GM128485-02
by Delaina Hawkins
Director of Marketing


Golden Helix, Inc. has announced themselves as the recipient of an NIH SBIR Grant 2R44GM128485-02 entitled �Automated and Guided Workflows for Clinical Testing Using NGS Assays.� �With the help of this grant, we will take the clinical automation of NGS data to the next level, focusing on germline diseases and cancer diagnostics,� states Andreas Scherer, Ph.D., President, and CEO of... Continue Reading �

On Our Way to ACMG 2019
On Our Way to ACMG 2019
by Shanna Finley
Director of Operations


Our team is looking forward to an eventful week at ACMG 2019 in Seattle, Washington! If you are attending the conference, we hope you�ll stop by our booth and say hello to the team: Andreas Scherer, Ph.D., Gabe Rudy, and myself, Shanna Finley! We would love the opportunity to connect with everyone in person! Our schedule is packed with a... Continue Reading �

New eBook: Clinical Variant Analysis
New eBook: Clinical Variant Analysis
Applying ACMG Guidelines to Analyze Germline Diseases

My new eBook �Clinical Variant Analysis � Applying ACMG Guidelines to Analyze Germline Diseases� was recently released which summarizes the key concepts of the ACMG guidelines. I cover what defines a pathogenic and benign variant respectively everything in between. I go over scoring mechanisms that allow us to classify a variant clinically. Lastly, I discuss a few interesting cases of variants and their classifications. I hope you find this to be a valuable resource.

I invite you to do download a complimentary copy of the eBook which can be found here.
   CEO Corner
Andreas Scherer
I want to give a big shoutout to the NIH. Over the last 18 months, we have received four awards: two SBIR Phase-I Grants and two SBIR Phase-II Grants. These awards show the NIH's unwavering support to the precision medicine space, in general, and to our ability to develop leading-edge software solutions in the genomic analytics space. The approved funding allows us to take calculated risks in the implementation of advanced CNV and other structural variant detection tools. Also, we can deep-dive into clinical workflows to analyze germline and somatic variants. Ultimately, we can combine all of these paradigms into a user-friendly, scalable software solution. Personally, I am humbled by the generosity the NIH displayed with these award decisions. I am committed to doing everything in my power to do the most with the approved funds.
 
  Latest Webcast
ACMG-Based Variant Classification with VSClinical

Presented by Eli Sward, Ph.D., Field Application Scientist

View the Recording

Evaluating variants according to the ACMG guidelines can be an extensive process as it requires an in-depth understanding of all available criteria for any variant. Even the most adept clinicians familiar to the guidelines suffer from this tedious manual process and from the challenge of teaching these fundamentals to new technicians. VSClinical is an automated solution to the complex ACMG guidelines process...
 
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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 400 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 1,300 publications such as Science, Nature and Nature Genetics.
 



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