Turning genomic complexity into precision medicine.
Genoprism brings phenotype, variant evidence, scientific literature, disease mechanisms and genomic interpretation into one structured investigation workspace.
Variant interpretation shouldn't require twenty open tabs.
After filtering, an exome may still leave 10–30 plausible candidates. Each one sends the analyst across population databases, clinical assertions, phenotype ontologies, prediction tools, protein resources, functional studies and primary literature — then back again to reconcile what was found.
The evidence exists. The workflow is fragmented.
One workspace. Every evidence dimension.
Candidates are held in a single case view, each carrying the evidence that has been retrieved for it and the evidence that is still missing. Select a row to open its investigation summary.
Open a candidate. See every dimension, and where it came from.
Pathogenicity is only part of the question.
How a variant is classified and whether it explains a specific patient's phenotype are related but distinct questions. A variant may remain a VUS and still be the strongest candidate in a case.
Context changes interpretation.
A damaging-looking variant is not automatically disease-causing. If the established mechanism for a gene–disease relationship is haploinsufficiency, a variant whose predicted molecular consequence does not produce loss of function warrants different weight.
Every conclusion should have a trail.
Genoprism is being designed so analysts can inspect where each piece of evidence came from — the source, its version, the retrieval time and the reviewer — rather than receiving unexplained conclusions.
Built to support judgment, not replace it.
Genoprism surfaces evidence and proposes where it may apply. The analyst accepts, modifies or rejects each suggestion, and the decision — with its rationale — is written to the case record.
threshold set at case configuration
The categories an investigation draws on.
Genoprism is being built to structure evidence across the resource categories analysts already work with, including public resources such as ClinVar, ClinGen, HPO, gnomAD and PubMed. No partnership or endorsement by any resource is implied.
Built beyond a single analysis.
The long-term aim is an evidence infrastructure that connects genomic data to interpretable, patient-specific molecular insight — across WES, WGS, rare disease genomics, reanalysis and clinical genomics workflows.
Genomics, engineering and clinical practice in one room.
Genoprism is being built by people who have worked inside variant interpretation rather than adjacent to it. The team is forming; roles below describe the shape of the founding group.
Genomic Analysts
Investigate candidates without rebuilding the same evidence picture in a dozen tabs.
Clinical Genetics Teams
Review the reasoning behind a candidate, not only its conclusion.
Diagnostic Laboratories
Structured records, version-pinned sources and an auditable review trail.
Rare Disease Researchers
Reanalyse cases as evidence changes, with prior review preserved.
Precision Medicine Programs
Connect genomic findings to patient-specific molecular interpretation.
What Genoprism does, and what it does not.
Help build the next generation of genomic interpretation.
Genoprism is being developed with genomic analysts, geneticists and rare-disease researchers. Early access is opening in stages.