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Golden Helix Newsletter
 
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 released earlier this month 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.

2019 abstract Competition Winners
2019 Abstract Competition Winners
by Andreas Scherer, Ph.D
President & CEO


We would like to thank everyone who entered our 2019 Abstract Competition. This event is an excellent opportunity for our team to hear the unique ways Golden Helix software is being applied around the world. We had a number of remarkable entries this year which made our selection process a daunting one, indeed. It is my pleasure to announce this... Continue Reading �

Case Study: Odense University Hospital
Case Study: Odense University Hospital
by Delaina Hawkins
Director of Marketing


Odense University Hospital in Odense, Denmark The Department of Clinical Genetics at Odense University Hospital offers a variety of genetic analyses for families of syndromic children and other inherited conditions, averaging 4,000 genetic analyses per year. In 2016, the lab decided to introduce whole exome sequencing to their offerings to take over a lot of the work they were currently... Continue Reading
   CEO Corner
Andreas Scherer
February was full of excitement for Golden Helix, starting with the release of my brand new eBook �Clinical Variant Analysis � Applying ACMG Guidelines to Analyze Germline Diseases.� In this eBook, I discuss the ACMG guidelines process and how our clinical interpretation solution, VSClinical, can support this. If you would like to receive a complimentary copy of this eBook, please do so by requesting this on our site here. Secondly, we announced our 2019 Abstract Competition winners. I want to thank everyone who contributed this year. Please join me in congratulating our winners found on our blog.
 
  Abstract Competition

Evaluating Splice Site Variants in VarSeq


Presented by Nathan Fortier, Ph.D., Director of Research

View the Recording

To adequately assess a variant's pathogenicity it is crucial to take into account the variant's effect on splicing. While mutations that disrupt the pairs of bases at the beginning of a splice site are straightforward to identify, detection of disrupted splice sites caused by changes to the splice motif is more difficult. In this webcast, we will discuss VarSeq's capabilities for...
 
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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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