生物信息学及生物信息查询与应用

本文介绍了基因组学与蛋白质组学和生物信息学的基本内容,列举了主要核酸、蛋白质数据库及其查询软件并说明如何利用查询工具对生物信息资源进行查询和对核酸蛋白质进行分析.     

Problems and promises: How to tell the story of a Genome Wide Association Study?

The promise of treatments for common complex diseases (CCDs) is understood as an important force driving large scale genetics research over the last few decades. This paper considers the phenomenon of the Genome Wide Association Study (GWAS) via one high profile example, the Wellcome Trust Case Control Consortium (WTCCC). The WTCCC despite not fulfilling promises of new health interventions is still understood as an important step towards tackling CCDs clinically. The ‘sociology of expectations’ has considered many examples of failure to fulfil promises and the subsequent negative consequences including disillusionment, disappointment and disinvestment. In order to explore why some domains remain resilient in the face of apparent failure, I employ the concept of the ‘problematic’ found in the work of Giles Deleuze. This alternative theoretical framework challenges the idea that the failure to reach promised goals results in largely negative outcomes for a given field. I will argue that collective scientific action is motivated not only by hopes for the future but also by the drive to create solutions to the actual setbacks and successes which scientists encounter in their day-to-day work. I draw on eighteen interviews.     

The evolution of BioBike: Community adaptation of a biocomputing platform

Programming languages are, at the same time, instruments and communicative artifacts that evolve rapidly through use. In this paper I describe an online computing platform called BioBike. BioBike is a trading zone where biologists and programmers collaborate in the development of an extended vocabulary and functionality for computational genomics. In the course of this work they develop interactional expertise with one another’s domains. The extended BioBike vocabulary operates on two planes: as a working programming language, and as a pidgin in the conversation between the biologists and engineers. The flexibility that permits this community to dynamically extend BioBike’s working vocabulary—to form new pidgins—makes BioBike unique among computational tools, which usually are not themselves adapted through the collaborations that they facilitate. Thus BioBike is itself a crucial feature—which it is tempting to refer to as a participant—in the developing interaction.     

“Whatever happened to the Genomatron?” Documenting a 21st century science

With notable exceptions, specialist museums have generally failed to collect an adequate record of the material culture of post-war science and technology. Some reasons for this failure are identified, and some suggestions for remedying this situation are made with the help of a specific example: genomic science and medicine. Genomics is a quintessentially 21st-century science: data-rich, digital, and technique-and technology-driven. As such, it presents particular challenges and opportunities to museums wishing to improve their performance in collecting recent and contemporary science and technology. The paper explores different dimensions of this challenge through the attempt to establish a Museum Genomics Initiative, an international group of museum professionals who are committed to collaborating around the documentation of genomic science and medicine.