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CIViC Analysis Notes

The CIViC resource is the preferred resource for the ClinGen Somatic Cancer Pediatric Taskforce. They have been working to create pediatric-disease-specific entries in the CIViC data model, and this serves as an easily updatable resource we may utilize to advance our own efforts.

Evidence selection criteria

CIViC evidence was searched under the following criteria:

  • Disease name contains "Pediatric"
    • Not all pediatric terms are linked to ontological concepts yet
  • Evidence is level B (Clinical trials) or level A (Validated association)
  • Evidence is accepted (has been reviewed and approved by a non-authoring editor)
  • Evidence is trust rating >= 3 stars
  • Evidence direction supports

Evidence to passlist roll-up

The resulting list of variants was small, mostly categorical.

  • Fusions:
    • KIAA1549-BRAF (Pediatric Low-grade Glioma (PLGG))
  • Amplifications:
    • MYB (PLGG)
  • Deletions:
    • ATRX (PLGG)
    • CDKN2A (PLGG)
    • IKZF1 (Pediatric B-cell Acute Lymphoblastic Leukemia (PB-ALL))
  • Mutations:
    • H3-3A (PLGG)
    • IKZF1 (PB-ALL)
  • Hotspots:
    • BRAF V600E (PLGG)