Golden Helix Software Discounted for COVID-19 Related Projects We have announced our latest efforts to help assist the clinical research community in this battle by offering significantly discounted 18-month software licenses for anyone researching or working on projects related to COVID-19. For more than 20 years, Golden Helix has focused on our mission to empower precision medicine around the world. We want you to know you have our commitment to continue providing you with the products and services you depend on during these unprecedented times. Read More
New eBook: Genetic Analysis of the COVID-19 Virus and Other Pathogens In this eBook, I summarize to the best of my knowledge our current understanding of COVID-19 and the virus SARS-Cov-2 causing it. Most of the papers that I used to prepare this eBook were published since the beginning of this year. The body of knowledge is quickly expanding and evolving. Next-Generation Sequencing (NGS) can deliver significant insights in this process. This eBook outlines how NGS can be used and how Golden Helix software solutions can be utilized in the process. ... Read More
Featured in The Journal of Precision Medicine: Best Practices for NGS-Based Cancer Diagnostics It is an honor to be published in The Journal of Precision Medicine’s March 2020 issue where I have outlined the current best practices for NGS-based cancer diagnostics. In this article, I detail The need to standardize clinical reporting Popular annotation sources and functional prediction algorithms The AMP Guidelines and how these can be applied with Golden Helix’s Diagnostic Platform for Cancer... Read More
Detecting de Novo Copy Number Inheritance and Family Segregations In trio workflows, one of the most important factors in scoring a variant is understanding how that variant is inherited from the parents. Likewise, when looking at extended families, the segregation, or presence of the variant among the affected versus unaffected individuals provides evidence for its pathogenicity for a given phenotype or disease. Given the nature of Copy Number Variants (CNVs) as large events being detected from variable depth Next-Gen Sequencing (NGS) data, it is difficult to consistently call the exact same start and stop positions between samples... Read More |