Wellcome Trust Centre for Human Genetics at the University of Oxford, Oxford, UK.
EMBO Rep. 2010 Sep;11(9):650-2. doi: 10.1038/embor.2010.126. Epub 2010 Aug 20.
The EMBO/EMBL symposium 'Human Variation: Cause and Consequence' highlighted advances in understanding the molecular basis of human genetic variation and its myriad implications for biology, human origins and disease. As high-throughput sequencing allows us to define genetic variation and its functional consequences at genome-wide resolution for a large number of people, important questions need to be asked about how to use new technologies to maximize the translational relevance of genetic research for society and the individual patient.
EMBO/EMBL 研讨会“人类变异：原因与后果”强调了在理解人类遗传变异的分子基础及其对生物学、人类起源和疾病的众多影响方面的进展。随着高通量测序技术的发展，我们可以在全基因组范围内为大量人群定义遗传变异及其功能后果，因此需要提出一些重要的问题，即如何利用新技术使遗传研究对社会和个体患者的转化相关性最大化。
