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Golden Helix Newsletter
We've announced our newest product!

The solution will allow labs to automate their clinical interpretation of variants based on ACMG guidelines. Our team has put together a blog series to discuss the product in more detail:

Part I By Andreas Scherer, Ph.D. | President & CEO

"The clinical interpretation of variants is time-consuming and requires attention to details. Clinicians are being asked to thoroughly review any variants that could potentially cause disease. There are guidelines for the interpretation of variants relating to hereditary risk, germline diagnostics, and molecular oncology panels�" Read More �

Part II By Andreas Scherer, Ph.D.

"So, what is all that buzz about this new product? Why do people care so much and how does it help a clinical lab? We had extensive dialogues with our customers over the last few years leading up to this product launch. The key value of VSClinical is in the following�" Read More �

Part III By Gabe Rudy | VP of Product & Engineering

"I want to cover the motivation for VSClinical and how we curated and presented the 33 criteria from the ACMG Guidelines into an intuitive workflow with various bioinformatic evidence and�" Read More �

Part IV By Gabe Rudy | VP of Product & Engineering

"We're going to go in more detail how VSClinical works, what algorithms and annotation sources power the recommendations and how the ACMG criteria are organized into useful categories. VSClinical is built to make the process of evaluating�" Read More �

Part V By Nathan Fortier | Senior Product Engineer

"Interpretation of variants in accordance with the ACMG guidelines requires that variants near canonical splice boundaries be evaluated for their potential to disrupt gene splicing. The five most common tools for splice site detection are NNSplice, MaxEntScan, GeneSplicer, HumanSplicingFinder, and SpliceSiteFinder-like�" Read More �

We'll be adding several more posts to this series, so stay tuned on our blog to learn more about VSClinical!

   CEO Corner
Andreas Scherer
Clinical variant interpretation requires a high degree of medical knowledge and a deep understanding of the guiding principles articulated by regulatory bodies such as the American College of Molecular Geneticists. Clinicians are being asked to thoroughly review any variants that could potentially cause a genetic disease. This month, we made a huge step forward by announcing our newest product VSClinical, designed to support the workflow of our clinical users assessing the clinical relevance of a particular variant. As the PI of grant 1R43GM128485-01, I personally would like to thank the NIH for their generous support of our work in this field. We will provide additional information about the specific capabilities of VSClinical in the form of blogs and webcasts in the upcoming months.
  Upcoming Webcast

Splice Site Algorithms for Clinical Genomics

May 2, 2018 | 12:00 PM Eastern

Register for the webcast

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� 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 analytic 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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