This analysis builds a variant query setting STUDY, SAMPLE and ID (ID refers to a list of variant IDs gotten by using the actionable variant manager for the study's assembly). Once built the query, the secondary findings analysis executes the query and calls the reported variant creator in order to creates reported variants with its reported events. ACMG values are computed and a Tier3 is assigned to each reported event.
Implementation
Input parameters
- Sample ID
- Study ID
- Assembly
Output results
- List of reported variants
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