Skip to content

Demonstrator 1: St. Judes Life Cohort

Jump to bottom
Matthew Brush edited this page Oct 18, 2017 · 2 revisions

Fanconi Anemia Variant Analysis in St. Jude Life Cohort

This demonstrator was developed by Blue and Orange teams to identify rare variants in FA-related genes that may correlate with clinical phenotypes and outcomes in the St. Jude Life cohort (e.g. disease onset/severity, response to treatment, secondary cancer, sensitivity to FA-related exposures). The demonstrator can be broken down into four tasks:

  • Task 1: Expand the set of primary FA genes (set FA-core) to include additional genes related based on diverse criteria.
  • Task 2: Identify patients with rare variants in these genes
  • Task 3: Mine and analyze patient data pertinent to FA to identify statistical correlations between rare variants and FA-related clinical phenotypes or outcomes.
  • Task 4: Leverage diverse biomedical knowledge about correlated variants to generate mechanistic hypotheses explaining the observed correlations, and suggest possible clinical interventions.

Additional information can be found in the google doc here, and the spreadsheet here.

Clone this wiki locally