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Genome-wide association studies in neurological disorders

机译:神经疾病的全基因组关联研究

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Background During the past decade, the genetic causes of monogenic forms of disease have been successfully defined; this work has helped the progression of basic scientific investigation into many disorders, and has helped to characterise several molecular biological processes. An important goal of genetic research is to extend this work and define genetic risk factor loci for complex disorders. The aim is for these data not only to offer further basic understanding of the disease process, but also to provide the opportunity to obtain genetic risk assessments that could be generalised to the public.Recent developments The development of resources such as the Human Genome Project and the International Human Haplotype Map Project, coupled with technological advances in ultra-high-throughput genotyping, have provided the basis for genome-wide association studies (GWAS). This approach has been successful for several complex disorders in a short time. Although GWAS are still a new method, these studies have been used for a small number of neurological disorders and, despite varied results for these conditions, GWAS can usefully show the power and limitations of this approach.
机译:背景技术在过去的十年中,已经成功地确定了单基因疾病形式的遗传原因。这项工作有助于将基础科学研究进一步发展为多种疾病,并有助于表征几种分子生物学过程。遗传研究的一个重要目标是扩展这项工作并确定复杂疾病的遗传危险因素基因座。这些数据的目的不仅是提供对疾病过程的进一步基本了解,而且还提供机会获得可以推广给公众的遗传风险评估。最新动态开发人类基因组计划和国际人类单倍型图谱计划以及超高通量基因分型的技术进步为全基因组关联研究(GWAS)提供了基础。这种方法在短时间内已成功用于多种复杂疾病。尽管GWAS仍然是一种新方法,但这些研究已用于少数神经系统疾病,尽管这些条件的结果各不相同,但GWAS可以有效地证明这种方法的力量和局限性。

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