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戈登·威尔逊讲座:癌症基因变异(重新)分类:从真实性到真相

THE GORDON WILSON LECTURE: CANCER GENE VARIANT (RE)CLASSIFICATION: FROM TRUTHINESS TO TRUTH.

作者信息

Ross Theodora

机构信息

DALLAS, TEXAS.

出版信息

Trans Am Clin Climatol Assoc. 2018;129:99-120.

Abstract

The new genetics, defined as that which followed the completion of the human genome project and includes development of rapid and cheaper next-generation sequencing (NGS), is impacting our medical world in several ways (1). As is the case in any new area of medicine, the field is infused with "truthiness," where instead, what is needed for good patient care and scientific rigor is an effort to close in on the truth. Today, I'll discuss how variation in the human genome is being evaluated and re-evaluated as we sequence more and more of our patients' genes.

摘要

新遗传学是指人类基因组计划完成后所衍生的领域,包括快速且成本更低的新一代测序(NGS)技术的发展,它正在多个方面影响着我们的医学领域(1)。与任何医学新领域的情况一样,这个领域充斥着“似是而非的观点”,而对于良好的患者护理和科学严谨性而言,我们需要努力去接近真相。今天,我将讨论随着我们对越来越多患者的基因进行测序,人类基因组变异是如何被评估和重新评估的。

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