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SVS7 Manual

Installing and Initializing
- Installation Overview
- Release Notes
Understanding the Interface and Workflow
- General Genetic Association Analysis Workflow
- Interface Overview
- Navigating the Welcome Screen
- Project Navigator
Importing Your Data Into A Project
- Importing Data
- Text File
- Third Party File
- PED/TPED/BED File
- Golden Helix, Inc. DSF File
- Legacy Golden Helix, Inc. GHD File
- Public Data
- Affymetrix Files
- Illumina
- Agilent Files
- NimbleGen Data Summary Files
- Importing PBAT Family-Based Data
- HapMap
- VCF
- Mach Output
- Parallele Long File
Genetic Marker Maps and Affymetrix Library Files
- Genetic Marker Maps Overview
- Convert Text File into Marker Map DSM Format
- Download from Golden Helix, Inc.
- Download Affymetrix Annotation Files
- Managing the MarkerMaps Folder
- Applying a Genetic Marker Map to a Spreadsheet
- Exporting an Applied Genetic Marker Map to a DSM file
- Downloading Affymetrix Library (CDF) Files
Spreadsheets
- Spreadsheet Overview
- Working with a Single Spreadsheet
- Editing a Spreadsheet
- Working with Multiple Spreadsheets
Scripting and Other Integrated Statistical Tools
- Integrated Tools Overview
- The Python Shell Window
- The Python Editor Window
- Running Scripts
- Obtaining Add-On Scripts
- Scripting Reference
Data Quality Assessment
- Quality Assurance Overview
- Quality Assurance Procedures
- Genotype Statistics by Marker
- Genotype Filtering by Marker
- Genotype Statistics by Sample
- PBAT Family-Based QC Statistics
- Principal Component Analysis Overview
- Genotypic Principal Component Analysis
- Numeric Principal Component Analysis
- Correcting for Stratification by Genomic Control
- Identity by Descent Estimation
- Inbreeding Coefficients
- LD Pruning
- Wave Detection and Correction
Analysis
- Genotype Association Tests
- Haplotype Association Tests
- Haplotype Block Detection
- Runs of Homozygosity
- Numeric Association Tests
- Regression Analysis
- Fisher’s Exact Test for Binary Predictors
PBAT Family-Based Analysis
- PBAT Family-Based Analysis Overview
- Using PBAT Capabilities Through SVS
- Pre-Study Power Calculation
- PBAT Genotype Analysis
- PBAT CNV Analysis
Copy Number Analysis
- Copy Number Analysis Overview
- Preparing Log2 Ratio Data
- Using CNAM Optimal Segmenting
- Outputs from CNAM Optimal Segmenting
- Manipulating and Analyzing CNAM Output
- CNV Association Tests
- Visualizing Copy Number Analysis Results
Sequence Analysis
- Sequence Analysis Overview
- Preparing Genotypes for Sequence Analysis
- Filtering with Annotation Tracks
- Collapsing Methods
- Sequence Analysis Tutorial
Visualizing Data
- Types of Plots Available
- Plot Viewer
- Genome Browser
- Opening the Plot Viewer
- Using the Graph Control Interface
- Using the Data Console
- Docking, Un-docking or Hiding Plot Viewer Subwindows
- Zooming in the Graph View
- Using LD Plots
- Haplotype Tables
- Heat Maps
- Creating Specialized Plots
Genome Browser
- Genome Maps
- Creating Genome Maps
- Switching Genome Maps
- Network Annotation Tracks
- Local Annotation Tracks
- Annotation Track Manager
Export Options for Data and Plots
- Exporting Spreadsheet Data
- Saving or Printing Graphs
Formulas and Theories: The Science Behind SNP and Variation Suite
- General Statistics
- Permutation Testing Methodology
- Linear Regression
- Logistic Regression
- Haplotype Frequency Estimation Methods
- Formulas for Principal Component Analysis
- Runs Of Homozygosity (ROH) Algorithm
- Quantile Normalization of Affymetrix CEL Files
- CNAM Optimal Segmentation Algorithm
Appendices
EULA
Installing the Third-Party Condor ®
- Installing Condor ® Overview
- Downloading and Using the Installation Wizard
- Troubleshooting Techniques and Common Issues
Extracting Affymetrix Copy Number Data for use in SVS
- Extracting Affymetrix Copy Number Data Overview
- Creating CNT Files using the Affymetrix CNAT Batch Analysis Tool
- Creating CNCHP Files Using Affymetrix Genotyping Console 2.0
- Affymetrix CNT File Format
Exporting Data from GenomeStudio
- Exporting Data From GenomeStudio Overview
- Exporting Genotype Data using the Final Report
- Exporting Data using the SVS DSF Export 4.0 Plug-In
Platform Notes
- Microsoft Windows
Hardware Acceleration
- Using Hardware Acceleration
A Glossary of Terms Used in Genetic Analysis
References

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11.5 Sequence Analysis Tutorial

For more details and up to date recommendations on Sequence Analysis, please see the Sequence Analysis tutorial on the Golden Helix, Inc. website: http://www.goldenhelix.com/SNP_Variation/tutorials/index.html

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