Genomic research is exploding. There is a plethora of new methods and workflows for research and clinical use. While we are a software company at heart, we find ourselves in the role of educators. Our customer interactions are about informing, teaching, and consulting. A few years back, we started with regular webcasts that took this idea to the next level. Over time we have assembled a lot of material that is useful for people in our field-whether they use our software or not.
Now, where to start?
Below, I have listed the top 5 webcasts that give viewers an understanding of basic GWAS and NGS workflows that serve as the foundation for the majority of our clients’ work.
In this presentation, Dr. Kenneth Kaufman from Cincinnati Children’s Hospital demonstrates the analysis of whole-exome DNA sequencing data from a family trio study. Typically, these studies generate ~100,000 variations per trio. In an advanced workflow, a combination of functional and sequence quality control measurements will be used to filter the DNA sequence data to obtain a small number of candidate de Novo, rare-recessively inherited, and compound heterozygous mutations.
In this webcast, Gabe Rudy, VP Product Development at Golden Helix, shows clinical samples to demonstrate the bioinformatic workflows and visualization techniques used to reproduce the published findings of “Ogden Syndrome” – a novel X-linked fatal genetic disorder discovered by Dr. Gholson Lyon of University of Utah (now at Cold Spring Harbor Laboratories).
These two webcasts are building a great foundation to better understand the design of clinical workflows. Our future new product strategy was inspired by these as well. Hint: Please expect some news about this topic soon!
3. Back to Basics: Using GWAS to Drive Discovery for Complex Diseases by Bryce Christensen
This webcasts covers the bread and butter workflow of many researchers utilizing Genome-wide association studies (GWAS). This type of approach has been providing valuable insight to the genetics of common and complex diseases for nearly 10 years. GWAS is alive and well, and remains a viable technology for genetic discovery.
4. Mixed Models: How to Effectively Account for Inbreeding and Population Structure in GWAS by Greta Linse Peterson
Population structure and inbreeding can confound results from a standard genome-wide association test. This webcasts shows how mixed models can be used in GWAS to better account for the random effect of relatedness that can lead to lower false discovery rates and identify the causative markers without over-correcting and dampening the true signal.
5. Rare Variant Analysis Workflows: Approaches to Analyzing NGS Data in Large Cohorts by Bryce Christensen
This presentation reviews some of the tools available in SVS for large sequenced cohorts including summarization, visualization, and statistical analysis of rare variants using KBAC, CMC, and other methods.
On some of our webcasts we approach a thousand registrations from around the globe. So, each time we hold one of these events, they are essentially a mini-conference. This demonstrates the kind of demand our community presents to learn about best practices. We will continue with this webcast series for the rest of the year, with one occurring about every three weeks. You will hear from domain experts in this field as well as from hard-working people here at Golden Helix.
Join us! Tell us what you want to hear about! Invite your colleagues! Register to received webcast invitations at www.goldenhelix.com.