Autumn Laughbaum, Biostatistician

Performing Small-N Sequencing Workflows: Approaches to Analyzing Trio NGS Data

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Today’s Agenda

Overview

SNP & Variation Suite (SVS)

SVS Demo

Conclusion

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Workflow Approach: Data Quality Preparation, Initial Investigation, Analysis

Python Interface

Why perform sequence analysis using small families?

Overview

Why perform seq analysis using small families?

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Father Mother

The 3-Part Workflow Approach

SNP & Variation Suite (SVS)

Core Features Packages Core Features Core Features

Powerful Data Management Rich Visualizations Robust Statistics Flexible Easy-to-use

Powerful Data Management Rich Visualizations Robust Statistics Flexible Easy-to-use

Applications Applications

Genotype Analysis DNA sequence analysis CNV Analysis RNA-seq differential expression Family Based Association

Genotype Analysis DNA sequence analysis CNV Analysis RNA-seq differential expression Family Based Association

SNP & Variation Suite (SVS)

Python Interface

Python Interface

SVS Add-On Scripts Repository

SVS Demo

Exome Sequencing

[Poll]

Conclusion

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