Performing Small-N Sequencing Workflows: Approaches to Analyzing Trio NGS Data
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Autumn Laughbaum, Biostatistician Performing Small-N Sequencing Workflows: Approaches to Analyzing Trio NGS Data
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Presenter Autumn Laughbaum has years of experience in implementing and optimizing genetic research workflows across various research organizations. In this webcast, she shares her expertise in investigating small-N NGS data and some tips and tricks for working with your data effectively. Researchers who are new to NGS data analysis will learn techniques commonly utilized in small-N sequencing workflows whereas experienced SVS users will discover more streamlined or "one-off" solutions to complement their advanced processes. The workflow for small-N trio data will cover three main aspects: data preparation, initial investigation, and variant analysis. To effectively showcase this workflow, Autumn will also highlight the online SVS Scripts Repository, which is home to several well-tested and high-quality tools that can become part of your analytic toolbox.
Transcript of 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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Questions during the presentation
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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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