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人类全基因组测序速度创新高
Ke Ji Ri Bao· 2025-10-20 23:42
Core Insights - The latest research published in the New England Journal of Medicine demonstrates that rapid genome sequencing and interpretation can be completed within hours, marking a significant advancement in clinical medicine and offering the potential for more precise and timely treatment for critically ill infants [1][2]. Group 1: Research Findings - Current rapid genome sequencing methods typically take several days from sample collection to report issuance, whereas many critical care decisions in neonatal intensive care units must be made within hours [1]. - The research team, in collaboration with Boston Children's Hospital, Broad Clinical Laboratory, and Roche Sequencing Solutions, developed an efficient workflow that allows for sample collection in the morning and diagnosis report completion by the afternoon [1]. - The team utilized Roche's sequencing solutions prototype to analyze 15 human samples, achieving remarkable speed in sample processing, with the fastest instance taking just over 3 hours from DNA extraction to obtaining genetic variation data [1]. Group 2: Implications for Clinical Practice - This breakthrough brings the field closer to achieving "bedside genome sequencing," which could be integrated into routine diagnostic standards in intensive care units [2].