Foundations and profiles: splicing metaphors in genetic databases and biobanks

Foundations and profiles: splicing metaphors in genetic databases and biobanks
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基础和概况:基因数据库和生物库中的拼接隐喻

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发表时间:
2006
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通讯作者:
M. Ratto
M. Ratto
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作者:
M. Ratto

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在本文中,我们探讨了基因组学的新发展,特别是从像人类基因组计划(HGP)这样的数据测序工作,到明确关注基因与环境之间复杂关系的数据驱动基因组工作的新形式的转变。我们比较了人类基因组计划中使用的一个关键术语“基础”的比喻,以及在“后基因组”项目的典范——GenomEUtwin联盟中使用的另一个不同的术语“剖面”的比喻。通过这样做,我们试图重新思考语言和隐喻在科学项目中的作用,并探索后基因组研究的新发展。这些发展包括:首先,对基因和性状关系复杂性的明确和程序化承认的运动;其次,使用生物信息学技术作为发现的探索性工具,而不是作为更直接的“解码”努力的一部分;第三,网络基础设施的发展,连接并提供对大量不同数据库的访问;第四,生物学、临床工作、以及公共卫生倡议。我们使用“拼接”的比喻来强调科学家们在“编织”大型科学项目成功所必需的各种各样的想法、兴趣和参与者时所从事的异质工作。
In this paper we explore new developments in genomics, in particular the move from data sequencing efforts like the Human Genome Project (HGP), to newer forms of data-driven genomic work that focus explicitly on the complicated relationship between genes and environment. We compare the use of a key term within the HGP, the metaphor of “foundation,” to the use of a different term, the metaphor of “profile,” within the GenomEUtwin consortium, an exemplar of “post-genomic” projects. By doing so, we attempt to re-think the role of language and metaphor in scientific projects and explore new developments in post-genomic research. These developments include: first, the movement towards an explicit and programmatic acknowledgement of the complexity of gene and trait relationships, second, the use of bio-informatics techniques as exploratory tools of discovery rather than as part of a more straightforward “decoding” effort, third, the development of network infrastructures that link up and provide access to a vast array of different databases, and fourth, the alignment between various disciplines and interests within biology, clinical work, and public health initiatives. We use the metaphor of “splicing” to emphasize the heterogeneous work of scientists engaged in “weaving together” the diverse set of ideas, interests, and players necessary for the success of large-scale scientific projects.