Litton Jan-Eric
Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Methods Mol Biol. 2011;675:343-61. doi: 10.1007/978-1-59745-423-0_21.
The sequencing of the human genome, completed at the dawn of the twenty-first century, allows researchers to integrate new data on genetic risk factors with demographic and lifestyle data collected via modern communication technologies. The technical prerequisites now exist for merging these cascades of molecular genetic information, not only to national health registers, but also to epidemiology and clinical data. Long-term storage of biological materials and data is a critical component of any epidemiological or clinical study. In designing Biobanks, informatics plays a vital role for the handling of samples and data in a timely fashion. Biobank Informatics contains important elements concerning definition, structure, and standardization of information that has been gathered from a multitude of sources from population-based registries, biobanks, patient records, and from large-scale molecular measurements.
人类基因组测序于21世纪初完成，这使研究人员能够将关于遗传风险因素的新数据与通过现代通信技术收集的人口统计学和生活方式数据相结合。现在不仅具备将这些分子遗传信息级联与国家健康登记系统合并，还能与流行病学和临床数据合并的技术前提条件。生物材料和数据的长期存储是任何流行病学或临床研究的关键组成部分。在生物样本库的设计中，信息学对于及时处理样本和数据起着至关重要的作用。生物样本库信息学包含了有关从基于人群的登记系统、生物样本库、患者记录以及大规模分子测量等众多来源收集的信息的定义、结构和标准化的重要元素。
