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Exome sequencing a review of new strategies for rare genomic disease research

机译：外显子组测序综述罕见基因组疾病研究新策略

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The journey related to genomic information access and utilization by researchers and clinicians has barely begun to be travelled. There remains a broad horizon in the research and clinical arenas for fulfillment of that journey. Exciting is the potential depth and breadth of research, clinical applications, and more personalized medicine, that remain on the horizon. Exome sequencing has clarified the responsibilities of over 130 genes, greatly expanding the medical genetics database and enabling the development of orphan disease-based pharmaceuticals. Our research focus was to review >50 literature sources that related to rare genomic disease research and exome sequencing, as well as the new research and diagnostic strategies that were utilized. Using a systems approach, under discussion are ciliopathy, dermatology, otorhinolaryngology, immunology, gastroenterology, hematopoiesis, metabolic diseases, and the cardiovascular system. Also discussed are genetic, syndromic, and mitochondrial exome research. Recommendations for future research will also be discussed. (C) 2016 Elsevier Inc. All rights reserved.
机译：研究人员和临床医生与基因组信息的获取和利用有关的旅程几乎尚未开始。在研究和临床领域中，实现这一旅程仍存在广阔的前景。令人兴奋的是，潜在的深度和广度的研究，临床应用以及更个性化的药物仍在视线中。外显子组测序已阐明了130多个基因的职责，大大扩展了医学遗传学数据库，并促进了基于孤儿疾病的药物的开发。我们的研究重点是回顾50多种与罕见基因组疾病研究和外显子组测序有关的文献资料，以及所利用的新研究和诊断策略。使用系统方法，正在讨论的是纤毛病，皮肤病学，耳鼻喉科，免疫学，肠胃病，造血，代谢疾病和心血管系统。还讨论了遗传，综合征和线粒体外显子组研究。还将讨论未来研究的建议。 （C）2016 Elsevier Inc.保留所有权利。

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