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Exploring the dark genome: implications for precision medicine.
Mammalian Genome ( IF 2.5 ) Pub Date : 2019-07-04 , DOI: 10.1007/s00335-019-09809-0
Tudor I Oprea 1, 2, 3, 4
Affiliation  

The increase in the number of both patients and healthcare practitioners who grew up using the Internet and computers (so-called "digital natives") is likely to impact the practice of precision medicine, and requires novel platforms for data integration and mining, as well as contextualized information retrieval. The "Illuminating the Druggable Genome Knowledge Management Center" (IDG KMC) quantifies data availability from a wide range of chemical, biological, and clinical resources, and has developed platforms that can be used to navigate understudied proteins (the "dark genome"), and their potential contribution to specific pathologies. Using the "Target Importance and Novelty Explorer" (TIN-X) highlights the role of LRRC10 (a dark gene) in dilated cardiomyopathy. Combining mouse and human phenotype data leads to increased strength of evidence, which is discussed for four additional dark genes: SLX4IP and its role in glucose metabolism, the role of HSF2BP in coronary artery disease, the involvement of ELFN1 in attention-deficit hyperactivity disorder and the role of VPS13D in mouse neural tube development and its confirmed role in childhood onset movement disorders. The workflow and tools described here are aimed at guiding further experimental research, particularly within the context of precision medicine.

中文翻译:

探索黑暗基因组:对精密医学的意义。

使用互联网和计算机(所谓的“数字原生代”)长大的患者和医疗从业人员的数量增加可能会影响精密医学的实践,并且还需要用于数据集成和挖掘的新型平台作为上下文信息检索。“发光药物基因组知识管理中心”(IDG KMC)量化了来自广泛的化学,生物学和临床资源的数据可用性,并开发了可用于研究未充分研究的蛋白质的平台(“黑暗基因组”),及其对特定病理的潜在贡献。使用“目标重要性和新奇资源管理器”(TIN-X)强调了LRRC10(黑暗基因)在扩张型心肌病中的作用。结合小鼠和人类的表型数据可提高证据强度,对另外四个黑暗基因进行了讨论:SLX4IP及其在葡萄糖代谢中的作用,HSF2BP在冠状动脉疾病中的作用,ELFN1参与注意力缺陷多动障碍和VPS13D在小鼠神经管发育中的作用及其在儿童发作性运动障碍中的确定作用。本文所述的工作流程和工具旨在指导进一步的实验研究,尤其是在精密医学领域。ELFN1参与注意缺陷多动障碍和VPS13D在小鼠神经管发育中的作用及其在儿童发作性运动障碍中的证实作用。本文所述的工作流程和工具旨在指导进一步的实验研究,尤其是在精密医学领域。ELFN1参与注意缺陷多动障碍和VPS13D在小鼠神经管发育中的作用及其在儿童发作性运动障碍中的证实作用。本文所述的工作流程和工具旨在指导进一步的实验研究,尤其是在精密医学领域。
更新日期:2020-03-28
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