人类生物银行作为一个团队和一个网络项目

M. Marino, S. Canitano, G. Cigliana, E. Gallo, B. Antoniani, M. Chiara, oj, E. Pescarmona, M. Mottolese, L. Conti
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引用次数: 1

摘要

在医学研究中,人体生物信息库的目的是研究疾病背后的遗传、分子和环境因素。以人群为基础的生物库,包括来自大型流行病学队列中健康个体的血液,以及健康和患病受试者的生物体液和组织标本,构成了生物库的“核心”。基于人群的生物库通常探索种系生物学特征,而来自患病受试者的标本生物库旨在研究与不同类型疾病相关的体细胞改变。更详细地说,存在几种类型的生物库:1)群体生物库,旨在获得身份和易感性的生物标志物,通常基于一大群健康供体受试者的DNA,代表一个民族队列;2)面向疾病的流行病学生物库,基于大量样本,旨在确定生物标志物暴露,通常遵循健康暴露队列/病例对照设计。这些生物库根据大量专门设计和收集的数据研究种系DNA或血清标记物;3)以疾病为导向的生物银行(通常是肿瘤银行)旨在从样本及其衍生物(DNA/RNA/蛋白质)的集合中识别疾病生物标志物,通常与临床数据和/或临床试验相关。与样本相关的临床数据量决定了样本的可用性和生物学价值。生物库组织是一个复杂的工具,涉及物流基础设施以及专门开发的信息学工具和伦理问题。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Human Bio banking as a Team and a Networking project
In medical research, human bio banking is directed to investigate the genetic, molecular and environmental factors underlying diseases. Population-based bio banking of blood from healthy individuals in large epidemiological cohorts and of biological fluids and tissue specimens both in healthy as well as in diseased subjects constitutes the "core" of biobanks. Population-based biobanks usually explore germline biological traits, whereas biobanks of specimens from diseased subjects aimed to investigate somatic alterations associated to different types of diseases. More in detail, several types of Bio banks exist: 1) Population bio banks, aimed to obtain biomarkers of identity and susceptibility, usually based on the DNA of a large cohort of healthy donor subjects, representative of an ethnic cohort; 2) Disease-oriented bio banks for epidemiology, based on a large sample number, aimed to identify biomarker exposure, usually following a healthy exposed cohort/case-control design. These biobanks study germline DNA or serum markers on the basis of large amounts of specifically designed and collected data; 3) Disease-oriented biobanks (usually tumor banks) aimed to identify disease biomarkers in a collections of samples and their derivates (DNA/RNA/proteins), usually associated to clinical data and / or clinical trials. The amount of clinical data linked to the sample determinates the availability and biological value of the sample. Biobank organization is a complex tool involving logistic infrastructures as well as specifically developed informatics tools and ethical issues.
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