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下一代测序技术的临床应用

Clinical Applications of Next-Generation Sequencing.

作者信息

Rebollar-Vega Rosa Gloria, Arriaga-Canon Cristian, de la Rosa-Velázquez Inti Alberto

机构信息

Genomics Laboratory, Red de Apoyo a la Investigación, Universidad Nacional Autónoma de México - Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.

CONACYT-Instituto Nacional de Cancerología, Mexico City, Mexico.

出版信息

Rev Invest Clin. 2018;70(4):153-157. doi: 10.24875/RIC.18002544.

Abstract

The significant drop in sequencing costs boosted by chemistries optimization and sample multiplexation has resulted in an immense growth within the field of next-generation sequencing (NGS) in the last decade. This has allowed a diversification of techniques, promoting a rapid advance in knowledge on the molecular basis of human disease. Due to the applicability and importance of this technology in basic research, it has quickly migrated to the clinical setting. NGS enables clinicians to make improved diagnostic and treatment decisions, which ultimately may influence precision medicine.

摘要

过去十年间,测序成本因化学方法优化和样本多重化而显著下降,推动了新一代测序(NGS)领域的巨大发展。这使得技术多样化,促进了人类疾病分子基础知识的快速进步。由于该技术在基础研究中的适用性和重要性,它已迅速应用于临床环境。NGS使临床医生能够做出更好的诊断和治疗决策,最终可能会影响精准医学。

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