GenoPrism brings phenotype, variant evidence, scientific literature, disease mechanisms and genomic interpretation into one structured investigation workspace.
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.
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.
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.
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.
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.
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.
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.
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.
GenoPrism publishes the tools it builds along the way. Each runs on its own site, states plainly what it is for, and is not a medical device.
A research-use-only workspace for the candidate variants that come out of a whole-exome case, most of them of uncertain significance. Pathogenicity, gene–disease validity and phenotype fit travel together on every candidate but never collapse into one number, and every evidence row carries its source, version and retrieval date.
A short, evidence-based questionnaire for smokers feeds a transparent risk model that renders a lung illustration, a risk band and a personalized prevention plan. It runs entirely in the browser and stores nothing.
GenoPrism is led by two people. One owns the science, the other the platform, and each product above is shaped between them.
Investigate candidates without rebuilding the same evidence picture in a dozen tabs.
Review the reasoning behind a candidate, not only its conclusion.
Structured records, version-pinned sources and an auditable review trail.
Reanalyse cases as evidence changes, with prior review preserved.
Connect genomic findings to patient-specific molecular interpretation.
GenoPrism is being developed with genomic analysts, geneticists and rare-disease researchers. Early access is opening in stages.