Cell-state restriction clarifies MYH7 variant signals
A reproducible workflow for asking when cardiomyopathy-associated variation becomes biologically legible.
Read studyOpen analyses of rare-disease mechanisms.
Methods-led research built from public data, versioned assumptions, and explicit limitations.
Convergent phenotype modules across neurodevelopmental genes
Testing whether distinct rare-disease genes converge on shared developmental programs.
Read studyConstraint-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.
Read studyOntology depth changes gene-ranking stability
Measuring how broad and specific phenotype terms alter computational prioritization.
Read studyRare variants and microglial activation states
Separating disease-associated state signatures from generalized inflammatory response.
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