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GeneDx

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Ideas that could help GeneDx

Non-Coding VUS Regulatory Triage for Rare-Disease GenomesWhy it helps: One of the largest providers of clinical whole-genome and exome sequencing for rare disease; a non-coding triage layer directly expands its diagnostic yield on cases where coding variants explain nothing.
Zero-Shot VUS Rescue for Rare-Disease GenomesWhy it helps: One of the largest exome/genome diagnostic labs; the backlog of unresolved noncoding and indel variants is a direct curation cost, and a re-ranked shortlist cuts review time per case.
CDH2 Prodomain Cleavage Assay: VUS Resolution for Neurodevelopmental LabsWhy it helps: Returns thousands of neurodevelopmental exomes; a reflex cleavage assay turns CDH2 VUS into actionable classifications and reduces uninformative reports.
TrackShift: Batch Assembly-Migration Service for Legacy Genomics AssetsWhy it helps: Runs one of the largest exome reanalysis programs in the US; legacy hg19-era variant and region databases must follow patients onto newer assemblies for reanalysis to work.
ADHDMono: A CDH2-Led Gene Panel for Familial ADHDWhy it helps: High-volume exome lab; adding a curated CDH2/synaptic-adhesion ADHD panel converts currently unreturned variants into reportable findings for familial cases.

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