Rare Variant Analysis Workflows: Approaches to Analyzing NGS Data in Large Cohorts
Analysis of rare variants for population-level data is becoming a more common component of genomic research. Whether using exome chips, whole-exome sequencing, or even whole-genome sequencing, rare variation analysis requires a unique analytic perspective.
In this presentation, we will review 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.
Special attention will be given to useful functions available for download from the SVS scripts repository.
About the Presenter
Dr. Bryce Christensen fills two roles at Golden Helix as he is both the Director of Services as well as a Statistical Geneticist. Bryce joined GHI in 2009 from the University of Utah where he earned his PhD in Genetic Epidemiology and Biomedical Informatics. Before undertaking his graduate studies, Bryce worked for 2 years as a data analyst at Mayo Clinic in the Division of Biostatistics.