1. Whole exome sequence data analysis

• 1.1. ClinDet WXS workflow
  • 1.1.1. QC and preprocess
  • 1.1.2. Small variants (SNVs/Indels)
  • 1.1.3. Copy Number Variants
  • 1.1.4. RNA-seq
  • 1.1.5. MultiQC
  • 1.1.6. Case Reports
  • 1.1.7. Implementation