Mechanism chain
Connect variant effect to molecular program, cell state, and phenotype.
Therapeutic hypotheses
A useful hypothesis specifies cellular context, direction of correction, expected readout, and a reason it could be wrong.
Intervention logic
Define whether a program should be restored, reduced, redirected, or timed differently.
Validation plan
Name the assay, context, readout, and disconfirming observation.
Questions we force the analysis to answer
Every output is evaluated against explicit interpretive tests.
- Is direction of effect supported at the variant and pathway levels?
- Can the intervention reach the relevant cell state and developmental window?
- Which result would force the hypothesis to be revised?
Related studies
Constraint-aware prioritization in pediatric cardiomyopathy
Integrating population constraint without allowing it to overwhelm tissue and phenotype evidence.
Read study
Cross-atlas replication of dosage-sensitive programs
A study of which haploinsufficiency signals persist across public single-cell references.
Read study