Translational bioinformatics: linking knowledge across biological and clinical realms
Translational bioinformatics: linking knowledge across biological and clinical realms
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DOI：
10.1136/amiajnl-2011-000245
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发表时间：
2011-07-01
影响因子：
6.4
通讯作者：
Ohno-Machado, Lucila
中科院分区：
文献类型：
--
作者：
Sarkar, Indra Neil;Butte, Atul J.;Ohno-Machado, Lucila
在人类基因组初稿完成近十年后，生物医学界将迎来一个科学探究的新时代，将基础生物学见解与临床知识联系起来。因此，需要整体的方法来发展和评估结合基因型、表型和环境知识的假设。这一观点将转化生物信息学作为一门学科，建立在生物信息学和健康信息学的成功基础上，用于复杂疾病的研究。转化生物信息学的早期成功表明，人类基因组计划有可能实现对疾病遗传基础的更深入了解，并朝着开发新一代疗法的方向取得进展。
Nearly a decade since the completion of the first draft of the human genome, the biomedical community is positioned to usher in a new era of scientific inquiry that links fundamental biological insights with clinical knowledge. Accordingly, holistic approaches are needed to develop and assess hypotheses that incorporate genotypic, phenotypic, and environmental knowledge. This perspective presents translational bioinformatics as a discipline that builds on the successes of bioinformatics and health informatics for the study of complex diseases. The early successes of translational bioinformatics are indicative of the potential to achieve the promise of the Human Genome Project for gaining deeper insights to the genetic underpinnings of disease and progress toward the development of a new generation of therapies.