Session 8: Genetic mosaicism and clonal hematopoiesis

Practical session

This workshop will explore the essential steps for detecting mosaic chromosomal alterations (mCAs).

Practical Overview:

  • Convert GenomeStudio CNV table to VCF
  • Perform Phasing using EAGLE2
  • Detect mCAs using MoChA on the phased VCF
  • plot the identified mCAs
  • Utilize Circos to illustrating the distribution of autosomal mCAs categorized as Gain, CNLOH, and Loss

Let’s get started

Please go ahead and open the 08_mCA_colab.ipynb Google colab notebook.