Annotating DNA Variants Is the Next Major Goal for Human Genetics
Annotating DNA Variants Is the Next Major Goal for Human Genetics
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DOI：
10.1016/j.ajhg.2013.12.008
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发表时间：
2014-01-02
影响因子：
9.8
通讯作者：
Cutting, Garry R.
中科院分区：
文献类型：
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作者：
Cutting, Garry R.
在过去的二十年里，临床基因检测经历了巨大的转变。以前在少数基因中检测成熟的致病DNA变异的诊断实验室已经发展成为测序工厂，可以识别数千种已知和未知的医学后果。要使遗传学成为医疗保健的核心特征，下一个巨大的挑战是在我们的基因组中找出哪些会引起疾病，哪些不会引起疾病。我认为，缩小我们解释孟德尔遗传病变异能力的差距，为遗传学家提供了一个前所未有的重大机遇。人类遗传学家有能力与基础科学家和临床医生合作，协调对变异的系统评估。知识、数据、方法和工具的共享将有助于研究人员和医疗工作者实现他们的共同目标，即确定变异的致病潜力。变异注释的产生将为基因检测提供信息，并将加深我们对基因和蛋白质功能的理解，从而有助于寻找分子靶向治疗。
Clinical genetic testing has undergone a dramatic transformation in the past two decades. Diagnostic laboratories that previously tested for well-established disease-causing DNA variants in a handful of genes have evolved into sequencing factories identifying thousands of variants of known and unknown medical consequence. Sorting out what does and does not cause disease in our genomes is the next great challenge in making genetics a central feature of healthcare. I propose that closing the gap in our ability to interpret variation responsible for Mendelian disorders provides a grand and unprecedented opportunity for geneticists. Human geneticists are well placed to coordinate a systematic evaluation of variants in collaboration with basic scientists and clinicians. Sharing of knowledge, data, methods, and tools will aid both researchers and healthcare workers in achieving their common goal of defining the pathogenic potential of variants. Generation of variant annotations will inform genetic testing and will deepen our understanding of gene and protein function, thereby aiding the search for molecular targeted therapies.