Illumina’s constellation mapping spots hard‑to‑see variants in pilot

In a GeneDx pilot presented at ASHG, Illumina’s constellation mapped‑read technology outperformed other methods at detecting challenging, hard‑to‑map variants implicated in rare disease. The pilot reported higher sensitivity across diverse sample types and variant classes, suggesting constellation mapping could close diagnostic gaps left by short‑read sequencing. Companies said the result supports broader adoption of the approach for rare‑disease diagnostics and clinical sequencing pipelines.