From thousands of variants to one answer

Key takeaways

• MIMI Ranker helps GeneDx clinical teams prioritize variants more consistently and efficiently.
• In validation across more than 16,000 clinical exome and genome cases, 98% of diagnostic variants ranked in the top 3 candidates.
• AI-powered prioritization helps reduce manual burden and focus analyst review on the most clinically relevant variants.
• GeneDx combines AI technology with expert clinical interpretation to support faster and more reliable rare disease diagnoses.

How AI is changing what’s possible in genetic diagnosis

A patient presents with developmental delay, seizures, and no clear diagnosis. You order genome sequencing.

The result? ~5,000,000 variants.

Some are common. Most are benign. One or two might explain everything.

The challenge isn’t sequencing. It’s knowing where to look.

What if the right answer was already in the top 3?

That's the goal behind MIMI Ranker, our AI-powered variant prioritization tool, built to help our clinical team surface the variants most likely to explain a patient's condition, faster and with greater confidence.  

In a validation study across more than 16,000 clinical exome and genome cases:¹

‍

That means instead of searching through hundreds of variants, our team can focus immediately on what matters most, moving patients closer to a diagnosis without unnecessary delay.

A closer look: how this changes a real case*

*Illustrative example

A pediatric patient presents with:

• Global developmental delay
• Hypotonia
• Seizures

‍

Exome sequencing identifies ~5,000,000 variants.

Traditional workflow:

• Filter by frequency, inheritance, predicted impact
• Manually cross-reference phenotype against dozens to hundreds of candidate variants  

‍

It's time-intensive, and there's inherent variability across reviewers.

With MIMI Ranker:

• Phenotype data (HPO terms) + variant data are analyzed together
• Variants are ranked by likelihood of being disease-causing
• A de novo missense variant in SCN2A surfaces in the top results  

‍

Through expert clinical validation, our team confirms  a molecular diagnosis of SCN2A-related Developmental and Epileptic Encephalopathy, a rare neurodevelopmental condition caused by de novo variants in the sodium channel gene SCN2A, which carries real implications for treatment selection.  

Because for SCN2A, knowing if the variant results in loss-of-function or gain-of-function has direct impact on which therapies are most appropriate, making the speed and precision of that initial prioritization clinically meaningful, not just operationally efficient.

With MIMI Ranker, our team looks at the most likely diagnostic variants, not the entire exome.

Diagnosis happens faster. Confidence is higher. And for the patient, that can mean earlier clarity, earlier care decisions, and fewer unanswered questions.

What makes MIMI Ranker different?

MIMI Ranker was trained and validated on expert reviewed clinical cases, not simulated data. It learns from actual diagnostic outcomes, integrating both variant-level features and structured phenotypic data to prioritize what's most likely to matter for your specific patient.

It's also built on a foundation no other lab can replicate: GeneDx Infinity – one of the world’s largest genomic datasets – of more than 2.5 million genetic tests, including over 1 million exomes and genomes, more than 1.4 billion clinical datapoints, and more than 8 million mapped phenotypic datapoints.

AI that augments clinical expertise

Every MIMI Ranker result is reviewed by our expert clinical analysts. AI handles the scale. Our experts make the call.

This is where AI is most powerful: reducing noise, surfacing signal, and allowing our clinical analysts to focus where it matters most, understanding which variants correlate with your patient's specific presentation.

Getting patients to answers, sooner

For many patients, the hardest part isn’t the test itself. It’s the waiting. The uncertainty. The not knowing.

By helping prioritize what matters most, faster, MIMI Ranker supports a simple but meaningful goal: shorten the path from sequencing to diagnosis, so patients can move forward with clarity.

GeneDx is the foundational model for rare disease

GeneDx is the foundational AI platform for rare disease diagnosis. MIMI Ranker is just one piece of a broader ecosystem of AI tools power our diagnostics and workflow. By accessing Infinity, our interpretation is stronger, more complete, and continuously improving — setting a bar others cannot match.