多基因医学中风险评分的应用前景。
Prospects for using risk scores in polygenic medicine.
机构信息
Social, Genetic and Developmental Psychiatry Centre, PO80 Institute of Psychiatry, Psychology and Neuroscience (IoPPN), King's College London, 16 De Crespigny Park, London, SE5 8AF, UK.
Department of Medical and Molecular Genetics, King's College London, Guy's Hospital, 8th Floor Tower Wing, Great Maze Pond, London, SE1 9RT, UK.
出版信息
Genome Med. 2017 Nov 13;9(1):96. doi: 10.1186/s13073-017-0489-y.
Abstract
Genome-wide association studies have made strides in identifying common variation associated with disease. The modest effect sizes preclude risk prediction based on single genetic variants, but polygenic risk scores that combine thousands of variants show some predictive ability across a range of complex traits and diseases, including neuropsychiatric disorders. Here, we consider the potential for translation to clinical use.
摘要
全基因组关联研究在识别与疾病相关的常见变异方面取得了进展。这些中等效应大小的研究结果排除了基于单一遗传变异进行风险预测的可能性，但结合了数千个变异的多基因风险评分在一系列复杂特征和疾病中显示出了一定的预测能力，包括神经精神障碍。在这里，我们考虑了将其转化为临床应用的潜力。
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