Cell identity
Harmonize labels across references without pretending that taxonomies are identical.
Single-cell context
Disease mechanisms become actionable when they are placed in the right cell type, state, and developmental window.
Cell state
Separate constitutive expression from disease-relevant activation and maturation programs.
Cross-atlas transfer
Require signals to persist beyond one cohort, protocol, or annotation scheme.
Questions we force the analysis to answer
Every output is evaluated against explicit interpretive tests.
- Is the signal specific to a cell state or common across the tissue?
- Does it survive alternate preprocessing and label resolution?
- Which perturbation context can directly test the proposed mechanism?
Related studies
Cell-state restriction clarifies MYH7 variant signals
A reproducible workflow for asking when cardiomyopathy-associated variation becomes biologically legible.
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Convergent phenotype modules across neurodevelopmental genes
Testing whether distinct rare-disease genes converge on shared developmental programs.
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