Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine
Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine
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DOI：
10.1002/humu.22982
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发表时间：
2016-06-01
期刊：
影响因子：
3.9
通讯作者：
Hegde, Madhuri R.
中科院分区：
文献类型：
--
作者：
Bean, Lora J. H.;Hegde, Madhuri R.
测序技术的革命性变化和开发罕见疾病疗法的愿望导致在过去 5 年中产生了大量基因组数据。研究和诊断实验室进行的大规模测序将许多新基因与罕见疾病联系起来，但也产生了许多我们今天无法解释的变异。显然，我们距离完全了解人类基因组的基因组变异及其与人类健康和疾病的关系还有很长的路要走。最近的研究确定了传染病的易感性标记，以及罕见变异对不同人群中复杂疾病的贡献。测序革命还导致了大量数据库的创建，这些数据库充当数据的“守护者”，并在许多情况下对变异的影响做出解释。这种解释基于文献报告、预测模型，在某些情况下还附有功能性证据。当我们走向基因组医学实践并考虑其在“个性化医疗”中的地位时，是时候问自己如何将这些丰富的数据聚合到一个数据库中，供具有不同目标的多个用户使用。
Revolutionary changes in sequencing technology and the desire to develop therapeutics for rare diseases have led to the generation of an enormous amount of genomic data in the last 5 years. Large-scale sequencing done in both research and diagnostic laboratories has linked many new genes to rare diseases, but has also generated a number of variants that we cannot interpret today. It is clear that we remain a long way from a complete understanding of the genomic variation in the human genome and its association with human health and disease. Recent studies identified susceptibility markers to infectious diseases and also the contribution of rare variants to complex diseases in different populations. The sequencing revolution has also led to the creation of a large number of databases that act as "keepers" of data, and in many cases give an interpretation of the effect of the variant. This interpretation is based on reports in the literature, prediction models, and in some cases is accompanied by functional evidence. As we move toward the practice of genomic medicine, and consider its place in "personalized medicine," it is time to ask ourselves how we can aggregate this wealth of data into a single database for multiple users with different goals.