Reconstructing a Genotype-Phenotype Map In Chronic Lymphocytic Leukemia
Dylan Kotliar, Dan-Avi Landau, Oren Litvin et al.




Key Points:

  • Gene expression can act as intermediate measurement linking genotype to phenotype.
  • Methods developed to statistically assess associations between somatic mutations, transcriptional programs, and clinical outcome.
  • Associated IGHV-mutation status and 7 recurrent somatic alterations with 44 modules of co-expressed genes and later tried to understand function of modules
  • Linked module expression with a clinical outcome.

    Implications:

  • Proof of principle for a "genotype-phenotype map."


    View the original abstract on the ASH website.






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