performing small-n sequencing workflows: approaches to analyzing trio ngs data

Autumn Laughbaum, Biostatistician

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

?

Use the Questions pane in your GoToWebinar window

Questions during the presentation

? ?

Today’s Agenda

Overview

SNP & Variation Suite (SVS)

SVS Demo

Conclusion

1

2

3

4

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?

Ref_Ref

Ref_AltChild

Ref_Ref

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

?

Use the Questions pane in your GoToWebinar window

Questions?? ?