Tag Archives: Golden Helix

Our top eBooks for genomics enthusiasts

genomics ebooks

Our eBook series is made-up of short reads that cover a range of genomic industry topics. From simple bioinformatic concepts to the detailed structure of a genetic data warehouse, we have committed ourselves to provide the community with premium educational resources – at no cost! The series is constantly changing with revisions and new additions, but we’ve found our top… Read more »

Cited in 1,200+ Publications

      Delaina Hawkins    February 1, 2018    No Comments on Cited in 1,200+ Publications
1,200+ publications

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 users with 1,200+ publications. A process we know to be long, difficult and incredibly rewarding, it’s an absolute pleasure to be cited… Read more »

10 Most Innovative Pharma and Life Sciences Solutions Providers 2018

innovative

Awarded one of the top biotech companies 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 received this award and being recognized amongst the top biotech companies! You can access the publication featuring my interview with the editor here: http://www.insightssuccess.com/golden-helix-helping-researchers-clinicians-understand-role-cnvs-human-health-disease/. I have outlined some… Read more »

Using GRCh38 for Clinical Interpretation: Now Possible with Our Custom LiftOver Tracks

There are many good reasons why the pursuit of the highest quality genomic interpretation would lead you to the latest human reference. It is more complete and fixes incorrect or partially missing genes that have known implications for human disease. While most major projects cataloging human populations have plans to re-do all their genomic alignments to the new human reference… Read more »

Revisiting the Five Splice Site Algorithms used in Clinical Genetics

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… Read more »