QC - SNV Germline

This is the documentation for quality controls that are part of CGAP Pipelines module for germline Single Nucleotide Variants (SNVs).

• VCF Quality Control
  • Overview
  • Definitions
    • Variant Types Distribution
    • Base Substitutions
    • Transition-Transversion Ratio
    • Heterozygosity Ratio
    • Depth of Coverage
    • Mendelian Errors in Trio
    • Ancestry and Sex Prediction
  • References