How it works
From referral to report,in one record.
Seven systems work on each case. The models propose. People decide, and people sign.
The systems
Seven systems. Not one model.
Calculations are deterministic wherever they can be, and every result records the versions behind it.
CasePatient, phenotype, pedigree, consents and files in one versioned record. Everything else writes into it.
BioinformaticsOne versioned pipeline from sequencing files to annotated variants: validation, QC, normalization, annotation and segregation. Read files up to 500 GB, uploaded in resumable parts.
KnowledgeVersioned snapshots of public databases and literature. Every record keeps its source, release and ID. When a snapshot changes, only the cases it could affect are looked at again.
DiscoveryCandidate genes and diseases from several independent channels, kept side by side. A rank is never a probability.
InvestigationEvidence for and against each hypothesis, what is still unknown, and the next test worth ordering. Agents propose here and nothing more.
Clinical productReview, comments and sign-off. Reports are rendered from the case record, and a person approves them.
PlatformOrganisations, units, roles and the audit trail. Each organisation’s data stays separate from the others’.
Case
Entered once.
Every phenotype term has a state of its own. Terms read from clinical notes come with the sentence they came from, and hedged ones wait for you.
Absent, unknown, not tested and not provided are different values
Pedigree and consents recorded once
Read files up to 500 GB, resumable
Investigation
What supports it, what contradicts it, what is unknown.
Every claim keeps its source, release and record ID. A suggested next step names the test, who to test and what it would settle.
Unknown is not absent
A rank is never a probability
The system proposes, a person decides
Clinical product
Signed by a person.
Reports are rendered from the case record, so they match the evidence on screen. Approvals, comments and version checks go on the audit trail.
ACMG/AMP criteria and ClinGen CNV scoring, signed off by a person
Comments, mentions and approvals
Rendered from the record, never the other way round