For most clinical labs today, the bottleneck has shifted from data generation to data interpretation. With ACMG v4 guidelines raising the bar and complex variant types like CNVs and SVs becoming routine, selecting the right bioinformatics partner carries real strategic weight.
In "Beyond the Black Box,: A Framework for Evaluating Clinical Bioinformatcs Platforms in 2026" Jeanette McCarthy, MPH, PhD (Zifo) and Mitch Nemcek (SeqOne) offer a grounded, technical framework for assessing what modern clinical platforms actually deliver.
What You'll Learn:
- Beyond Variant Calling: Why high-throughput labs need to evaluate the full operational picture, including workflow resilience and case management, not just detection performance.
- Transparency Over "Black Boxes": How SeqOne's DiagAI Score provides a clear 0–100 ranking based on pathogenicity, inheritance, and HPO matching — keeping the clinician in control.
- Mastering the Complex: Practical methods for identifying and ranking SVs and CNVs that standard tools often miss.
- Real-World Impact: A rare disease case study showing how AI-driven prioritization surfaces causal variants faster in practice.
Meet the Speakers:
- Jeanette McCarthy, MPH, PhD — Genetic epidemiologist and principal consultant at Zifo, specializing in helping labs scale precision medicine.
- Mitch Nemcek — Director of Field Application Science at SeqOne.
