WGS Variant Calling - Variant Filtering and Annotation - Part 2 - Detailed NGS Analysis Workflow

WGS Variant Calling - Variant Filtering and Annotation - Part 2 - Detailed NGS Analysis Workflow

bioinformagician via YouTube Direct link

Data used for today’s demo

9 of 20

9 of 20

Data used for today’s demo

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Classroom Contents

WGS Variant Calling - Variant Filtering and Annotation - Part 2 - Detailed NGS Analysis Workflow

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  1. 1 Intro
  2. 2 Overview of variant calling steps
  3. 3 Questions we may want to ask after calling variants
  4. 4 Variant data sources
  5. 5 Two approaches to filter variants
  6. 6 Hard filtering: Site-level filtering
  7. 7 Hard filtering: Sample-level filtering
  8. 8 Genotype Refinement
  9. 9 Data used for today’s demo
  10. 10 Pre-requisites
  11. 11 Filtering SNPs
  12. 12 Filtering INDELS
  13. 13 Understanding output after filtering FILTER column
  14. 14 Select variants that passed filters
  15. 15 Exclude variants that failed genotype filters
  16. 16 GATK Funcotator tool
  17. 17 Funcotator data sources
  18. 18 Annotate variants using Functotator
  19. 19 Understanding output after annotation Funcotator output
  20. 20 Getting annotations into a tabular format

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