“Advancing Genomics with Turn‑Key Long‑Read Platforms”
- A major and rapidly expanding trend in the global single‑molecule real‑time sequencing (SMRT) market is the move toward fully integrated, end‑to‑end sequencing workstations that bundle long‑read instruments with automated sample preparation and cloud‑native analysis pipelines, dramatically shortening the path from DNA extraction to actionable results
- For instance, Pacific Biosciences’ Revio system couples on‑board compute with SMRT Link software, enabling users to launch assembly or variant‑calling workflows directly from the touchscreen and monitor HiFi read generation in real time—ideal for oncology panels, pharmacogenomics, and newborn screening
- Informatics suites now embed AI‑enhanced callers such as DeepConsensus and Google DeepVariant, which automatically refine read‑quality thresholds and deliver confidence‑scored variant reports, reducing reliance on specialized bioinformatics staff and accelerating clinical adoption
- Automated library‑prep modules from partners such as Hamilton Robotics and Roche KAPA streamline high‑molecular‑weight DNA handling for up to 96 samples per shift, trimming hands‑on time by more than 60 %—a critical enabler for large‑scale population genomics and rare‑disease studies
- Secure cloud deployment through collaborations with Amazon Web Services, DNAnexus, and Illumina Connected Analytics offers elastic storage, HIPAA‑compliant data management, and real‑time collaboration across distributed research teams, while built‑in LIMS connectivity supports CLIA and CAP accreditation
- Demand for these streamlined, intelligent SMRT solutions is climbing across academic, biopharma, and diagnostic sectors as organizations pursue faster turnaround times, lower per‑genome costs, and comprehensive detection of structural variants and epigenetic modifications at scale
