Every month hundreds of clinicians and researchers access the variety of free resources on the Golden Helix website. Our resource library hosts eBooks, webcasts and tutorials to keep the community apprised of new methods, informed on best practices and to help our customers get the most out of their software purchase. Here is a list of the 5 most watched webcasts on the Golden Helix site.
Cancer Workflows in VarSeq by Nathan Fortier
This webcast addresses the need for clinical labs to easily and quickly go from a sample to a clinical report with a short list of clinically relevant variants. Highlighted is VarSeq’s support for Cancer Gene Panels and Tumor-Normal workflows by demonstrating variant, region and sample quality assurance, filtering to variants in targeted cancer genes relevant to tumor type and summarizing variants in a clinical report.
A Walk Through GWAS by Jami Bartole
Genome-wide association studies (GWAS) have been providing valuable insight to the genetics of common and complex diseases for many years. In this webcast we will walk through one possible workflow for completing GWAS in Golden Helix SNP & Variation Suite (SVS) with special attention paid to adjusting analysis for population stratification.
Getting Started with VSWarehouse – The User Experience by Hauwa Yusuf
As the number of samples and associated data volume in a testing lab increases, it becomes imperative for labs to leverage state of the art warehousing technology that not only organizes data, but also aides and enables researchers and clinicians to perform further analysis, and ongoing research. This webcast provides a great overview of how to leverage a genomic data warehouse discussing 1) using VSWarehouse as an annotation source, 2) using VSWarehouse to alert for changes in public annotations that warrant a review of previously reported decisions, 3) using VSWarehouse to create a single repository of clinical samples that allows for retrospective cohort research studies and 4) using the VSWarehouse API to query for information.
Using WES in Distant Relationships to Identify Cardiomyopathy Genes by Dr. Bob Hamilton
Presented by Dr. Bob Hamilton of the SickKids Hospital in Toronto Canada this webcast discusses using WES in distant relationships to identify cardiomyopathy genes. Cardiomyopathy (DCM; MIM 115200) are myocardial diseases that are frequently hereditary, yet remain gene-elusive for 60% of affected families. Traditional gene discovery techniques dependent on multigenerational samples are difficult to apply. This is because disease is often impenetrant in the youngest generation, samples are often not available in the oldest generation and incomplete penetrance and variable expressivity are common across all generations. However, a detailed family history will often identify definitively affected but distantly related individuals. Dr. Hamilton shows how such families are highly powered for gene discovery using whole exome sequencing (WES) and analysis in SNP and Variation Suite (SVS) software.
Custom Family Workflows by Jami Bartole
VarSeq contains default workflows for Trio analysis which include filter chains for identifying de Novo and Compound Heterozygous variants, but what if you have data for a full Quad or even just a few siblings? How could your VarSeq workflow be adjusted to handle this custom family structure? In this presentation Jami demonstrates how to customize your VarSeq workflow to handle full quads (mother, father and 2 affected children), siblings with different affection status (mother, father, 1 affected and 1 unaffected child) and no parents (2 affected siblings).