Real genes. Real data. Real validation.

See how evolutionary recurrence resolves uncertainty across diverse disease genes — from ion channels to cancer drivers.

CFTR

SCN5A

BRCA1

BRCA2

PDK1

KRAS

Constraint predicts biological importance

Recurrence distinguishes tolerated variation

Evolution filters benign changes instantly

Human-unique variants stand out

Independent scientific demonstrations.

These studies highlight how evolutionary evidence aligns with functional biology across multiple disease domains.

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CFTR: Evolution mirrors functional assay results

Across the CFTR gene, nearly all known pathogenic variants fall in highly conserved regions with zero evolutionary substitutions. Recurring tolerated substitutions match benign classifications across ClinVar and experimental assays.

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MC1R: VUS reclassified through recurrence patterns

CodeXome reclassified 48 MC1R variants of uncertain significance as likely benign by revealing evolutionary recurrence across 15 primate genera and clarifying functional tolerance where population data provides no signal.

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Why evolution outperforms prediction alone

CodeXome Evolutionary Evidence

Basis

80M years of primate evolution

Evidence

Recurrence & absence

Output

Deep Time Ancestry Score

Resolution

Amino-acid level

Bias

Evolution-balanced

Interpretation

Empirical and biological

Prediction & Population Scores

Basis

Human-only cohorts

Evidence

Frequency & statistical patterns

Output

Prediction scores

Resolution

Dataset-dependent

Bias

Ancestry-limited

Interpretation

Probabilistic

VS

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Validated using trusted genomic resources

CodeXome's analyses integrate cross-referenced evidence from leading genetic databases.

ClinVar

UniProt

gnomAD

Ensembl

HGMD

NCBI

AlphaFold

GeneCards

ClinVar

UniProt

gnomAD

Ensembl

HGMD

NCBI

AlphaFold

GeneCards

Ongoing research

Upcoming validation collaborations

These studies are produced through our collaborations with academic partners, research groups, and student scientists. If you're interested in contributing to new analyses — whether through an internship, partnership, or joint study — we'd love to hear from you.

How to Cite CodeXome
If you need to properly cite CodeXome in publications, posters, or presentations, please visit our citation guide.

KRAS Evolutionary Modeling

Resolving functional domains associated with cancer-specific hotspots.

Neuromuscular Gene Benchmarks

Expanding comparative data for Nav, Cav, and muscular dystrophy genes.

Clinically Actionable Variant Sets

Prioritization algorithms for cardiomyopathy, metabolic disease, and cancer predisposition panels.

Multi-species Constraint Extensions

Adding additional mammalian clades beyond primates for high-resolution constraint scoring.

Beyond

Continuous Scientific Collaboration

We continue to release new analyses, expand datasets, and refine evolutionary scoring with contributions from academic researchers, graduate interns, and collaborative projects worldwide.

Inquire About Contributing

Built with the scientific community

Peer-reviewed, continuously expanding, and shaped by real research questions.

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Academic partnerships.

We collaborate with universities and research groups to refine recurrence scoring, expand datasets, and publish evolutionary insights.

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Student research initiatives.

‍Graduate and undergraduate students contribute to dataset discoveries, variant analyses, and early-stage genomic research.