Genoox (Franklin)

Upload patient VCF file and input detailed clinical symptoms using HPO terms.

System automatically filters out common population variants and highly benign artifacts.

AI engine scores and ranks the remaining variants based on phenotypic overlap and ACMG rules.

Geneticist reviews the top-ranked variants, confirms the causal mutation, and generates a clinical diagnostic report.

Configure automated pipeline for the specific targeted sequencing panel in Genoox.

Laboratory sequences patient DNA and automatically pushes FASTQ files to Genoox via API.

Genoox calls variants, annotates against proprietary oncology databases, and auto-classifies pathogenic variants.

Pathologist reviews the pre-populated report and electronically signs out the case to the referring oncologist.

Upload paired tumor and normal VCF files into the Franklin somatic pipeline.

System subtracts germline variants and isolates somatic mutations.

Mutations are cross-referenced with AMP/ASCO/CAP guidelines to determine clinical actionability.

Platform automatically matches actionable variants with recruiting clinical trials and FDA-approved targeted therapies.

LIMS automatically pushes batched targeted VCF files to the Genoox API.

Pipeline filters data specifically for known pathogenic carrier mutations.

Auto-generation of negative reports for samples with no findings.

Flagging of positive or ambiguous samples for manual review by a genetic counselor.

Researcher uploads a novel variant into the Franklin Community portal.

System checks the federated database for other institutions observing the exact variant.

Platform facilitates secure, anonymous messaging between the institutions.

Researchers collaborate to pool clinical evidence, upgrading the VUS to Pathogenic.