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Page 1: 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

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Page 3: Performing Small-N Sequencing Workflows: Approaches to Analyzing Trio NGS Data

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?

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Overview

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Why perform seq analysis using small families?

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Father Mother

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The 3-Part Workflow Approach

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SNP & Variation Suite (SVS)

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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)

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Python Interface

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Python Interface

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SVS Add-On Scripts Repository

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SVS Demo

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Exome Sequencing

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[Poll]

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Conclusion

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