Input
What you provide
- VCF, cohort CSV, or study metadata
- Variant IDs and finding set
- Study, PGx, hereditary, or tumor-board context
- Approval rules and jurisdiction context
App Data / Genomics
Genomics Variant Prep
Organize variant findings with the source trail intact.
Send a cohort, variant set, study metadata, annotations, and approval rules. The app keeps variant context, finding files, and study handoff state together. Limited release for teams with defined source access, workflow requirements, and a clear delivery goal.
Limited releaseLimited release. Available for scoped variant-preparation work after cohort, source, and review requirements are confirmed.
App path
Genomics Variant Prep
Limited release
InputCohort and variantsVCF, study metadata, finding set
CheckFinding stateClass, confidence, approval, amendment
OutputStudy fileFinding file and handoff
StatusLimited releaseScoped study programs
Genomics workflow overview
Input, work, and output
Work
What happens
- Groups variants by finding set and study context
- Keeps class, confidence, and source file state visible
- Tracks amendments, approvals, and release state
- Prepares a study handoff file when configured
Output
What you receive
- Variant study file
- Finding IDs and source links
- Amendment and approval state
- Study handoff file
Decision flow
Move from intake to review and handoff with clear owners at every step.
01
Load variants
Attach cohort, variant, finding, and study context.
Class and confidence stay visible.
02
Check finding state
The app surfaces VUS, pathogenicity, amendments, and blockers.
Clinical flags are visible.
03
Prepare study file
The output keeps finding IDs, source links, jurisdiction, and file URIs together.
Content hashes can be retained.
04
Keep study memory
Past amendments and blocker states can inform the next cohort.
Repeat variant issues are easier to see.
What you receive
Genomics Variant Prep deliverables
- Application
- Genomics Variant PrepLimited release
- Buyer
- Genomics, variant interpretation, tumor-board, and translational research teamsProgram owner
- Input
- cohort and variant setVCF / CSV / study metadata
- Review
- Study ownerGroups variants by finding set and study context Keeps class, confidence, and source file state visible Tracks amendments, approvals, and release state Prepares a study handoff file when configured
- Output
- Variant study file with annotations, source links, approval state, and study handoff.Checked study data, interpretation rules, and variant source files your genomics team can keep.
- Scope
- $40K-$150K typical engagementTypical engagement
What the workflow supports
| Outcome | Work | What you receive | Program fit |
|---|---|---|---|
| Input is ready | VCF, cohort CSV, or study metadata Variant IDs and finding set Study, PGx, hereditary, or tumor-board context Approval rules and jurisdiction context | Source, access, format, validation, project rules, and responsible owner. | Best for teams with a defined source, owner, and delivery goal. |
| Work can advance | Groups variants by finding set and study context Keeps class, confidence, and source file state visible Tracks amendments, approvals, and release state Prepares a study handoff file when configured | Stage, owner, checks, exceptions, reviewer notes, and required next action. | Your team can see blockers, owners, and next actions throughout the workflow. |
| Output can be released | Variant study file Finding IDs and source links Amendment and approval state Study handoff file | Sources, criteria, reviewers, decision, manifest, version, and audit history. | The final package is configured for the application, project, and review requirements. |
Good fit
What this application is for
- Variant study organization
- Finding file preparation
- PGx or hereditary research files
- Tumor-board prep support
Works alongside
What stays with your team
- Clinical interpretation or patient-care recommendations
- Replacing CLIA/CAP, medical director, or clinical process
Availability
Limited releaseLimited release for scoped studies after data access, study context, and review requirements are confirmed.