认识到非编码功能在临床基因组学中的意义。

Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia.

St. Vincents Clinical School, UNSW Sydney, Sydney, NSW, Australia.

Exp Mol Med. 2018 Aug 7;50(8):1-8. doi: 10.1038/s12276-018-0087-0.

Clinical genomics promises unprecedented precision in understanding the genetic basis of disease. Understanding the impact of variation across the genome is required to realize this potential. Currently, clinical genomics analyses focus on protein-coding genes. However, the noncoding genome is substantially larger than the protein-coding counterpart, and contains structural, regulatory, and transcribed information that needs to be incorporated into genome annotations if the full extent of the opportunity to use genomic information in healthcare is to be realized. This article reviews the challenges and opportunities in unlocking the clinical significance of coding and noncoding genomic information and translating its utility in practice.

临床基因组学有望在理解疾病的遗传基础方面实现前所未有的精准度。要实现这一潜力，就需要了解整个基因组中变异的影响。目前，临床基因组学分析主要集中在蛋白质编码基因上。然而，非编码基因组比蛋白质编码基因大得多，包含结构、调节和转录信息，如果要充分利用基因组信息在医疗保健中的机会，就需要将这些信息纳入基因组注释中。本文综述了在解锁编码和非编码基因组信息的临床意义并将其实际应用中的实用性转化方面所面临的挑战和机遇。