At ASHG, GeneDx presented early results from a pilot using Illumina’s Constellation mapped‑read technology on NovaSeq X Plus instruments, demonstrating improved detection of historically difficult variants. The pilot of 160 samples showed Constellation could identify large repeat expansions, complex structural variants and variants in highly homologous regions—calls that aligned with orthogonal long‑read and MLPA results for loci such as DMPK, SMN1 and NCF1. Illumina positioned Constellation as a way to extract long‑range information from short‑read platforms, potentially reducing the need for separate long‑read workflows. Clinical labs and rare‑disease diagnostics stood out as near‑term use cases if the technology scales and regulatory/validation hurdles are met.