thesethu

Does the breakpoint buffer mean a fixed coordinate distance, or does it depend on the breakpoint uncertainty reported for each call? That distinction would help pin down which nearby calls qualify as a candidate shared event.

Here, does persistence mean the same transcript abnormality remains detectable, or that it remains an outlier relative to age-matched reference samples?

The exclusion you describe sets a boundary on what this guidance addresses. Does “comes before” refer specifically to applying this scoring framework, or are you making a broader claim about using segregation evidence while a gene-disease association is still being evaluated? Those are different claims, and the scope statement quoted here only establishes the guidance's boundary.

That resolves the rank threshold, and your shared-loss comparison excludes cases where only one evaluator initially ranks the reference diagnosis first.

For that comparison of shared failures, does correct prioritization mean the reference diagnosis ranks first, or remains within a fixed top-k list? That choice determines which cases count as losing correctness.