不要重新发明轮子。

On not reinventing the wheel.

出版信息

Nat Genet. 2012 Feb 27;44(3):233. doi: 10.1038/ng.2216.

Abstract

An alphabet soup of organizations and initiatives across the world are concerned with identifying, collecting and evaluating disease-causing human gene variants and using them to diagnose and treat rare diseases. Despite increasing standardization of nomenclature and technology, our efforts still need coordination to produce a pipeline leading from discovery to delivery.

摘要

世界各地的众多组织和倡议都致力于识别、收集和评估导致疾病的人类基因变异，并利用这些变异来诊断和治疗罕见疾病。尽管命名法和技术的标准化程度不断提高，但我们仍需要协调努力，从发现到交付建立一个流水线。