Wellcome Trust Centre for Human Genetics, University of Oxford and Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7BN, UK.
Department of Oral Medicine, Guy's and St Thomas' NHS Foundation Trust, London SE1 9RT, UK.
Nat Rev Genet. 2015 Dec;16(12):689-701. doi: 10.1038/nrg4017. Epub 2015 Oct 27.
The combination of next-generation sequencing technologies and high-throughput genotyping platforms has revolutionized the pursuit of genetic variants that contribute towards disease. Furthermore, these technologies have provided invaluable insight into the genetic factors that prevent individuals from developing disease. Exploiting the evolutionary mechanisms that were designed by nature to help prevent disease is an attractive line of enquiry. Such efforts have the potential to generate a therapeutic target roadmap and rejuvenate the current drug-discovery pathway. By delineating the genomic factors that are protective against disease, there is potential to derive highly effective, genomically anchored medicines that assist in maintaining health.
下一代测序技术和高通量基因分型平台的结合,彻底改变了对导致疾病的遗传变异的研究。此外,这些技术还深入了解了防止个体患病的遗传因素。利用大自然设计的进化机制来帮助预防疾病是一个很有吸引力的研究方向。这些努力有可能生成一个治疗目标路线图,并使当前的药物发现途径恢复活力。通过描绘出对疾病具有保护作用的基因组因素,有可能开发出高效的、基于基因组的药物,从而帮助维持健康。