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Golden Helix Newsletter
 
10 Most Innovative Pharma and Life Sciences Solutions Providers 2018
10 Most Innovative Pharma and Life Sciences Solutions Providers 2018
by Andreas Scherer
President & CEO


Insight Success recently published its annual Pharma and Life Special Edition announcing the 10 most innovative solution providers of 2018. We are incredibly honored to have been named among the top 10 for the second time! Continue Reading

Robarts Research Institute & VS-CNV
Robarts Research Institute & VS-CNV
by Andreas Scherer
President & CEO


One of our main focuses in 2017 was VS-CNV which allows clinicians to directly call CNVs in target regions quicker, easier and more affordably than CMA or MLPA testing. Our clients at Robarts Research Institute shared their recent publication with me which confirms that our time and dedication to our CNV capabilities was well worth it. I am delighted to... Continue Reading »

Cited in 1,200+ Publications
Cited in 1,200+ Publications
by Delaina Hawkins
Marketing Manager


Golden Helix is fueled by our customers’ success; every product, every feature, every line of code is created to aid our users and their quest for discovery in the scientific community. As of today, our products have assisted in the publication of 1,200+ peer-reviewed articles. A process we know to be long, difficult and incredibly rewarding, it’s an absolute pleasure to be cited in your work and we congratulate you all on your success... Continue Reading »

Revisiting the Five Splice Site Algorithms used in Clinical Genetics
Revisiting the Five Splice Site Algorithms used in Clinical Genetics
by Nathan Frontier
Senior Software 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 [1]. The five most common tools for splice site detection are NNSplice, MaxEntScan, GeneSplicer, HumanSplicingFinder, and SpliceSiteFinder-like. Because these algorithms have been made easily accessible in the bioinformatics tool Alamut, they have been canonized for... Continue Reading »
   CEO Corner
Andreas Scherer
Our year started fast and furious! We kicked things off at PAG in San Diego. Our team enjoyed networking with many of our clients in the plant and animal community. Shortly after our return, Insight Success named Golden Helix as one of the 10 Most Innovative Pharma and Life Sciences Solution Providers in 2018. To end the month on a high note, we crossed the 1,200 mark for publications citing our software solutions. To sum it all up, this year could not have started better for Golden Helix and we look forward to what February has to offer!
 
  Upcoming Webcast

Using NGS to detect CNVs in familial hypercholesterolemia

Register for the webcast

Familial hypercholesterolemia (FH) is a heritable condition of severely elevated LDL cholesterol, characterized by premature atherosclerotic cardiovascular disease. FH affects an estimated 1 in 250 individuals worldwide, and is considered to be the most frequent monogenic disorder encountered in clinical practice. Although FH has multiple genetic etiologies, the large majority of defined cases result from autosomal codominant mutations in the LDL receptor gene (LDLR).
 
   Conference Schedule
We'll be attending a number of conferences in 2018. Please let us know if you will be attending any of these conferences and would like to arrange time to meet in person!
  • ACMG 2018
  • ESHG 2018
  • ASHG 2018
  • AMP 2018
You can find our entire conference schedule here.
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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 1,100 publications such as Science, Nature and Nature Genetics.
 



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