Variant consequence
Compare transcript-aware annotations and retain disagreement between sources.
Variant to phenotype
A rare variant becomes informative when consequence, gene biology, inheritance, and phenotype form a coherent evidence chain.
Gene-level priors
Use constraint and disease association as calibrated evidence, not automatic answers.
Phenotype fit
Model exact terms, informative ancestors, and uncertainty in observation.
Questions we force the analysis to answer
Every output is evaluated against explicit interpretive tests.
- Which transcript and consequence definitions change the interpretation?
- Does the candidate remain plausible when broad phenotype terms are removed?
- What evidence would distinguish causal biology from coincidental overlap?
Related studies
Constraint-aware prioritization in pediatric cardiomyopathy
Integrating population constraint without allowing it to overwhelm tissue and phenotype evidence.
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Cross-atlas replication of dosage-sensitive programs
A study of which haploinsufficiency signals persist across public single-cell references.
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