Genomics solution

Clinical and bioinformatics solutions for genomics labs

From order intake to variant interpretation, purpose-built solutions covering the full lab workflow, compliant with 21 CFR Part 11, HIPAA, and CLIA/CAP standards.

covering end-to-end lab workflow

Where we fit in your workflow

We've built a suite of genomics-native products that labs deploy to eliminate manual bottlenecks, reduce operational overhead, and accelerate time-to-report.

01.
Order Intake

SmartReq:
An Intelligent requisition form extraction

02.
Order Validation

Intergenix:
‍A modern LIMS-EHR interoperability

03.
Sequencing

Your Infrastructure

04. Bioinformatics Pipeline

StrixFlow:
Pipeline monitoring and orchestration

05.
Variant Analysis

Varion:
AI-powered tertiary analysis platform

06.
Knowledge Database

GENVAR: Genomic Evidence & Variant AI Repository

07.
Reporting

ReportStudio: Drag and Drop Clinical Report Builder

WHAT WE'VE BUILT AND WHY

Solutions built for genomics labs and diagnostic organizations

Missed orders, late reports, invisible pipeline failures, interpretation backlogs, these aren't edge cases, they're structural. We built these solutions because labs doing critical work deserve infrastructure that keeps up with them.

SmartReq

Intake & Operations

Intelligent patient requisition form extraction

Challenge

Intake teams manually re-key hundreds of requisition forms every day across dozens of referring provider layouts. A wrong insurance ID, a missing ICD code, a transposed patient DOB, errors introduced at intake propagate all the way to billing and cause claim denials. There is no scalable manual fix.

Key Features

20+ referring provider form templates supported, with template detection at intake
Reads printed text, handwritten entries, checked boxes, and circled options
Schema validation before human review, distinguishes a clean extraction from a valid one
Low-confidence fields flagged explicitly, never silently dropped
On-premise deployment, patient data never leaves your infrastructure

Intergenix

EHR Integration

EHR order validation and management layer that sits over Mirth Connect

Challenge

A meaningful share of EHR orders coming through Mirth Connect fail silently, duplicate submissions from retries, missing insurance segments, malformed HL7. These failures are discovered reactively: billing denials, downstream rejections, or a clinic calling to ask why a result hasn't arrived. Operations teams have no real-time visibility and no structured path to resolution.

Impact

Drools-based rules engine validates every order at intake, completeness, validity, and business rules
Deduplication runs before validation, duplicate orders never enter the validation queue
Field-level actionable status per order, specifies exactly which fields failed and why
Structured clinic outreach workflow with follow-up tracking and escalation path
Pattern detection, surfaces which clinic or EHR vendor is the root cause of recurring failures

StrixFlow

Pipeline Monitoring & Orchestration

Real-time bioinformatics pipeline observability, compute cost tracking, and compute management

Challenge

Pipeline failures are discovered at the clinical end, not the pipeline end. Labs running Nextflow or Snakemake on HPC or cloud have no unified view of what is running, what failed, and why. Compute costs are invisible until the cloud bill arrives. Existing tools like Terra and Seqera Tower solve parts of this, but not cost-per-sample visibility, step-level failure diagnosis, and HPC/cloud unified monitoring together in a self-hosted deployment the lab controls.

Impact

Multi-workflow support: Nextflow DSL2, Snakemake, WDL, CWL, connects without pipeline rewrites
Step-level DAG visualization with failure diagnosis and monospace error output per failing process
Cost-per-sample tracking across HPC (SLURM, PBS, LSF) and cloud environments in one unified view
Pipeline Reproducibility Manifests, tool versions, container digests, and parameter sets captured per run
RBAC across roles with 21 CFR Part 11 compliant immutable audit logging

Varion

Clinical Genomics

End-to-end variant interpretation with ACMG/AMP classification and 21 CFR Part 11 audit trails

Challenge

Analysts manually query ClinVar, gnomAD, and OMIM for every candidate variant and apply ACMG criteria by hand. At scale, this becomes the primary TAT bottleneck. Annotation API costs compound fast with no local caching strategy, and there is no structured reasoning layer to build AI-assisted interpretation on top of.

Impact

Three parallel scoring tracks: ACMG/AMP rule engine, HPO phenotype similarity, AI pathogenicity scoring
Four-tier local annotation cache (Redis, Postgres/PGVector, DuckDB, live API fallback), no per-query cost at scale
Germline and somatic schemas sharing a GA4GH VRS-compliant canonical variant store
Human-in-the-loop sign-off, AI assembles evidence, analyst decides, no report issues without approval
FHIR/HL7 integration for downstream EHR and LIMS reporting

Genvar

Knowledge Management

Proprietary variant KMS with GA4GH VRS canonical store and PGVector AI co-pilot layer

Challenge

A lab's most valuable asset is its accumulated clinical judgment, but when that knowledge lives in a vendor platform like Emedgene, the lab doesn't own it. Classification reasoning, reclassification history, and evidence trails sit in a form that can't be queried, migrated cleanly, or used as a foundation for AI-assisted interpretation. When analysts leave, their reasoning walks out with them. When ClinVar updates, nobody finds out until a clinician asks.

Impact

GA4GH VRS-compliant canonical variant identity, same variant across germline and somatic workflows linked to one record
Every classification is a versioned event, reclassification creates a new version, prior records never overwritten
PGVector semantic search across the full institutional interpretation history
AI Interpretation Co-pilot retrieves most relevant internal precedents during analyst review via RAG
ClinVar diff monitoring, reclassification candidates surfaced proactively on every new release

ReportStudio

Lab Operations

Drag-and-drop clinical report builder with template versioning and approval workflows

Challenge

Every new report type, panel update, or regulatory language change requires a developer ticket and a 3–4 month cycle. Lab staff have no direct control over the tools they depend on daily. Without a formal approval layer, unapproved templates can enter production and unsigned reports can reach clinicians, creating accreditation exposure the lab may not even be aware of.

Impact

Drag-and-drop canvas for composing report layouts, no code required
Reusable component library: headers, result tables, interpretation blocks, dynamic variable placeholders
Full template version history with approval workflow, no template enters production without sign-off
Pipeline JSON output maps directly to report placeholders, no copy-paste, no reformatting step
21 CFR Part 11 compliant audit trail per template and per issued report

HOW WE WORK

We fit into your world, not the other way around

Your stack, your infrastructure, your compliance requirements. We've never asked a lab to rebuild what's already working. We come in where the gaps are and leave with something your team owns.

On-premise or cloud

Every solution supports self-hosted deployment. PHI and genomic data stay inside your environment, no third-party cloud processing.

Integrates into your stack

HL7/FHIR, Mirth Connect, LIMS, EHR, built to connect to what you already run, not replace it.

Compliance-first architecture

21 CFR Part 11, HIPAA, ISO 27001. Audit trails, immutable logging, and RBAC built in, not bolted on.

Discovery to delivery in weeks

Fixed-scope engagements with IQ/OQ/PQ validation artifacts and a defined delivery playbook. No open-ended retainers.

Impact across every solution

Impact In NumbersGenomics labs lose thousands of hours a year to manual workflows that were never designed to scale. These numbers show what gets recovered.

Strixflow

60%

ops cost saved

with Strixflow 4–8 hrs/day debuggingfailed runs manually;no cost visibility

Varion

80%

time-to-report saved

with varion 6–8 hrs/ casefor manual classification and prioritization

SmartReq

90%

ops costsaved

with SmartReq 15–25 min per form;3–5% data entryerror rate

Intergenix

80%

integrationeffort cut

with Intergenix Manual re-entryacross 3–5 systems;8–12 hrs/week lost

GENVAR

60%

re-workeliminated

with Genvar Knowledge siloedin analyst memory;lost on staff turnover

ReportStudio

90%

report cycletime saved

with ReportStudio 4–8 hrs/day debuggingfailed runs manually;no cost visibility

Clinical and bioinformatics solutions for genomics labs

Where we fit in your workflow

Solutions built for genomics labs and diagnostic organizations

SmartReq

Intergenix

StrixFlow

Varion

Genvar

ReportStudio

We fit into your world, not the other way around

Impact In NumbersGenomics labs lose thousands of hours a year to manual workflows that were never designed to scale. These numbers show what gets recovered.

Strixflow

60%

ops cost saved

Varion

80%

time-to-report saved

SmartReq

90%

ops costsaved

Intergenix

80%

integrationeffort cut

GENVAR

60%

re-workeliminated

ReportStudio

90%

report cycletime saved

Expertise

Industries

About Us