Fast Annotations Around the Globe: Our Sydney and Frankfurt Data Mirrors By Gabe Rudy VP of Product & Engineering If you have watched this blog over time, it would be no surprise that Golden Helix invests a lot in curating genomic annotations for use with our clinical and research analysis products. Often, we spend considerable time on the attention to detail necessary to ensure the best experience for any data source by cleaning, normalizing, documenting and then distributing it through our data annotation server... Read More
VS-CNV; Golden Helix’s solution to replace traditional methods By Eli Sward, Ph.D Field Application Scientist Copy Number Variation (CNV) is a type of structural variation in which sections of the genome are duplicated or deleted. Although CNV events are rare in the human population, constituting approximately 10% of the human genome, they are also associated with being causal mutations for disease phenotypes. Because of this, it is important for clinical and research settings to identify CNV events in their samples or datasets... Read More
Golden Helix's End-to-End Architecture for Clinical Testing Labs By Gabe Rudy VP of Product & Engineering As clinical genetic tests have been adopted as a critical enabler of precision medicine, the number of tests offered by clinical labs and the volume of tested patients has grown by orders of magnitude in the past five years. The Gene Testing Registry, managed by the NIH, documented a rise from 13,000 to 60,000 tests offered in the US market... Read More
Using the K-Fold Cross-Validation Statistics to Understand the Predictive Power of your Data in SVS By James Grover Senior Software Engineer Using the K-Fold Cross-Validation Statistics to Understand the Predictive Power of your Data in SVS In cross-validation, a set of data is divided into two parts, the “training set” and the “validation set”. A model for predicting a phenotype from genotypic data and (usually) some fixed effect parameters is “trained” using the training set—that is, the best value(s) of the... Read More |