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