Golden Helix Analytic Services

Golden Helix offers advanced services for both SNP and CNV Analysis, as well as complex analytics and predictive modeling for diagnostic development.

Study Design and Plating Strategies Imputation Genotype Calling Segmentation/CNV Calling Data Quality Assurance

SNP Analysis CNV Analysis Genome-Wide Association Studies Linkage Analysis Predictive Modeling for Diagnostic Development

Of the many promises of genetic research, diagnostics is one area beginning to bear rich, rewarding fruit. Many genetic tests, some well-known, others somewhat obscure, are dramatically changing lives while also transforming the way disease is diagnosed and treated. Even so, the enormous potential of genetic diagnostics remains virtually untapped.

While many companies build or try to build diagnostics, the methods used are often outdated, and are why few of the resulting diagnostics are paradigm changing; many are merely small improvements over existing diagnostics. This is because most genetic diagnostics are developed based on the combined findings of several independent studies, each of which typically found a single variant associated with a disease (almost exclusively SNPs or expression values). These individual factors are then mathematically pooled to develop a combined estimate of disease risk.

There are many challenges with this approach, for example not properly accounting for penetrance or epistasis. Without exploring the interactions or correlation structure among various markers, such methods inherently assume genetic variants act independently when it is well known diseases are caused by multiple genetic and environmental factors. Moreover, combining these studies additively assumes the individual variants affect different populations; i.e., the affected groups from each study don’t have overlapping populations. It is no surprise, then, that clinical sensitivity as low as 50 or 60% is the standard in many genetic diagnostic tests.

To date, unraveling these complex processes and interactions has proven beyond the reach of traditional analytical approaches. The result is that a very limited subset of the causal factors, mechanisms, and interactions are typically considered in these diagnostics.

Leveraging years of experience performing genetic association studies across multiple marker types and platforms, we use advanced predictive modeling methods to help our clients build diagnostic models that properly account for complex gene-gene and gene-environment interactions. The result is more powerful multi-marker predictive models with greater accuracy and sensitivity than traditional genetic diagnostics. They are more clinically appropriate and represent a person’s true likelihood of contracting disease.

View our blog post on "Sustaining competitive advantage in array-based cytogenetics" by Dr. Christophe Lambert for a related discussion on the topic.

If you are interested in building advanced, powerful, life changing diagnostics, and are looking for a development partner, then contact us today.

Whether you're a beginner wanting to learn basic work flows or an advanced user wanting to get the full power out of our software, we have training programs to help you achieve your goals. The following training options are available on both an individual and team basis:

• Basic and advanced courses in genetic analysis using SVS
• On-site training tailored to you and your team's specific needs
• Webinar-based training

If you believe you can get more out of your tools than you do today, contact us today and discuss personalized training options.

Custom development comes in many forms. Sometimes it is as simple as a script for automating some aspect of your software, or just adding basic functionality. Other times the need is for something much greater – a new module to implement a helpful graphical capability perhaps, or a completely new method for dissecting your data. Some projects are simple, some are difficult, but they all have two things in common: they need to done cost-effectively, and they need to be done well.

Gone are the times when a software error was a good excuse for erroneous results. No longer is “not quite understanding” the user interface an understandable mistake. Your field is competitive and unforgiving, and so your tools must be rock solid and intuitive.

Golden Helix has been developing leading analysis tools for over a decade. Our custom development clients are household names, leaders in their fields. Our experience can be used to your advantage.

The experienced and knowledgeable software engineers at Golden Helix can augment any Golden Helix software package to enable you to meet your research goals. Whether you need a simple script or a completely new module, the experts at Golden Helix will help accelerate your research with a customized solution.

Contact us today to learn more about our custom software development solutions.