Broad Clinical Labs, in collaboration with Roche and Boston Children’s, reported an ultra‑rapid whole‑genome sequencing workflow using Roche’s SBX technology that reduced sample‑to‑variant turnaround to under four hours in a clinical research setting. The method, detailed at ASHG and in the New England Journal of Medicine, compressed extraction, library prep, expanded molecule synthesis and analysis to set a new benchmark for same‑day diagnostics in critically ill infants. Separately, EMBL researchers introduced SDR‑seq, a technique that decodes DNA and RNA from the same single cell to access noncoding regulatory regions where most disease‑associated variants lie. SDR‑seq enables direct linkage of noncoding variants to altered gene activity, offering a route to improve interpretation of genome‑wide association signals. Together, the advances push both throughput and functional resolution in clinical genomics, with implications for neonatal care, variant interpretation and precision diagnostics workflows.
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