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.

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