Questions we may want to ask after calling variants
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Variant data sources
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Two approaches to filter variants
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Hard filtering: Site-level filtering
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Hard filtering: Sample-level filtering
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Genotype Refinement
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Data used for today’s demo
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Pre-requisites
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Filtering SNPs
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Filtering INDELS
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Understanding output after filtering FILTER column
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Select variants that passed filters
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Exclude variants that failed genotype filters
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GATK Funcotator tool
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Funcotator data sources
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Annotate variants using Functotator
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Understanding output after annotation Funcotator output
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Getting annotations into a tabular format
Description:
Dive into an in-depth tutorial on variant filtering and annotation using GATK's Funcotator tool in whole genome sequencing (WGS) analysis. Explore the importance of filtering and annotating variants, and learn about two approaches: Variant Quality Score Recalibration (VQSR) and hard filtering. Discover various data sources and the concept of genotype refinement. Follow step-by-step demonstrations on filtering variants at both site and genotype levels, as well as annotating variants with Funcotator. Learn how to process Funcotator output into a tabular format for further analysis and visualization. Gain practical insights into handling VCF files, applying GATK hard-filters for germline variants, and utilizing bioinformatics tools for comprehensive NGS data analysis.
WGS Variant Calling - Variant Filtering and Annotation - Part 2 - Detailed NGS Analysis Workflow