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个性化生物化学与生物物理学。

Personalized biochemistry and biophysics.

作者信息

Kroncke Brett M, Vanoye Carlos G, Meiler Jens, George Alfred L, Sanders Charles R

机构信息

†Department of Biochemistry, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, United States.

‡Center for Structural Biology, Vanderbilt University, Nashville, Tennessee 37232, United States.

出版信息

Biochemistry. 2015 Apr 28;54(16):2551-9. doi: 10.1021/acs.biochem.5b00189. Epub 2015 Apr 15.

Abstract

Whole human genome sequencing of individuals is becoming rapid and inexpensive, enabling new strategies for using personal genome information to help diagnose, treat, and even prevent human disorders for which genetic variations are causative or are known to be risk factors. Many of the exploding number of newly discovered genetic variations alter the structure, function, dynamics, stability, and/or interactions of specific proteins and RNA molecules. Accordingly, there are a host of opportunities for biochemists and biophysicists to participate in (1) developing tools to allow accurate and sometimes medically actionable assessment of the potential pathogenicity of individual variations and (2) establishing the mechanistic linkage between pathogenic variations and their physiological consequences, providing a rational basis for treatment or preventive care. In this review, we provide an overview of these opportunities and their associated challenges in light of the current status of genomic science and personalized medicine, the latter often termed precision medicine.

摘要

对个体进行全人类基因组测序正变得快速且成本低廉,这使得利用个人基因组信息来帮助诊断、治疗甚至预防由遗传变异引起或已知为风险因素的人类疾病的新策略成为可能。新发现的大量遗传变异中,许多都会改变特定蛋白质和RNA分子的结构、功能、动态、稳定性及/或相互作用。因此,生物化学家和生物物理学家有大量机会参与以下工作:(1)开发工具,以便对个体变异的潜在致病性进行准确且有时具有医学可操作性的评估;(2)建立致病变异与其生理后果之间的机制联系,为治疗或预防护理提供合理依据。在本综述中,我们根据基因组科学和个性化医学(后者常被称为精准医学)的现状,概述了这些机会及其相关挑战。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ccc7/4415889/441d66de6d77/bi-2015-00189z_0001.jpg

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