Realizing the significance of noncoding functionality in clinical genomics.
Realizing the significance of noncoding functionality in clinical genomics.
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DOI：
10.1038/s12276-018-0087-0
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发表时间：
2018-08-07
影响因子：
12.8
通讯作者：
Dinger ME
中科院分区：
文献类型：
--
作者：
Gloss BS;Dinger ME
临床基因组学承诺在理解疾病的遗传基础方面具有前所未有的精确度。要实现这一潜力，需要了解整个基因组变异的影响。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，非编码基因组比编码蛋白质的基因组大得多，并且包含结构、调节和转录的信息，如果要充分利用基因组信息在医疗保健中的机会，这些信息需要被合并到基因组注释中。本文回顾了在解锁编码和非编码基因组信息的临床意义以及翻译其在实践中的应用方面的挑战和机遇。基因组中的大多数DNA并不包括编码蛋白质的基因，了解这些较少被检查的遗传物质部分的功能对于全面了解人类发育和疾病是至关重要的。澳大利亚悉尼加文医学研究所的布赖恩·格洛斯和马塞尔·丁格回顾了在解开我们DNA所有部分的临床意义方面的挑战和机遇。DNA中许多不编码蛋白质分子的区域在调节编码蛋白质的基因的活性和相互作用方面发挥着关键作用。这些地区的变化可能会对疾病的风险和原因产生重大影响。研究基因组的所有部分将是确保强大的现代基因分析技术对医疗保健产生最大影响的关键。
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. Most of the DNA in the genome does not consist of genes that code for proteins, and understanding the function of these less examined parts of our genetic material is essential to fully understand human development and disease. Brian Gloss and Marcel Dinger at the Garvan Institute of Medical Research in Sydney, Australia, review the challenges and opportunities in unraveling the clinical significance of all parts of our DNA. Many regions of DNA that do not encode protein molecules perform crucial functions in regulating the activity and interactions of the protein-coding genes. Variations in these regions may significantly influence the risks and causes of disease. Studying all parts of the genome will be critical for ensuring that the powerful modern techniques of genetic analysis have maximal impact on healthcare.
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影响因子：
56.9
作者：
Carninci, P;Kasukawa, T;Hayashizaki, Y
通讯作者：
Hayashizaki, Y
DOI：
10.1038/nrg3296
发表时间：
2012-11
期刊：
Nature reviews. Genetics
影响因子：
--
作者：
通讯作者：
--
影响因子：
3.7
作者：
Gussow AB;Copeland BR;Dhindsa RS;Wang Q;Petrovski S;Majoros WH;Allen AS;Goldstein DB
通讯作者：
Goldstein DB
影响因子：
4.5
作者：
Bacolla A;Wang G;Vasquez KM
通讯作者：
Vasquez KM
影响因子：
3.4
作者：
David，Dezso;Anand，Deepti;Lavinha，Joao
通讯作者：
Lavinha，Joao