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{bio,medical} informatics

Monday, August 07, 2000

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Cyberbiochemist Avalanches of data: mountains of problems
"Numerous bacterial genomes have already been sequenced; with modern industrial sequencers, a new bacterial genome can be sequenced in a few working days. The first draft sequences of the 140000 genes from the human genome should be completed this year, and 3million single-nucleotide polymorphisms are expected to be documented by 2002. All signal-transduction pathways will probably be elucidated by 2005. The population of Iceland will have their individual genomes sequenced by 2010. The pace of progress is relentless. The next onslaught of data will come from expression databases constructed from every tissue, from the moment of birth through to death. Simultaneously, expression profiles from diseased or pharmacologically challenged tissues will enable us to relate functional genomics to dynamic expression-difference profiles. Most of this work will be performed by commercial genomics companies.

In the post-genomic world, how are we going to survive under the weight of this amount of data? How are we to try to understand it? How are we going to exploit it? By the end of this year, the first cheap GHz personal computers will be ensconced on our desks, and with at least 20GB of disk space they should be powerful enough to do a considerable amount of data manipulation offline. However, the real challenge will be to develop software tools to interrogate the data in a way that goes beyond the simple bioinformatic data-mining techniques available today. " [via]

redux [07.25.00]
The Scientist The Language of Bioinformatics
[requires 'free' registration]
"Once the world had a single language and not too many words, but then clarity deteriorated into clamor. Today in the small but prolific world of bioinformatics, another Tower of Babel is rising up, with the miscommunication due as much to the rapid expansion of information as to basic changes in how it is processed. "Horrible problems" crop up as more information is computed on instead of read by a human researcher, according to Ewan Birney, a group leader in the Ensembl genome annotation project at the European Bioinformatics Institute (EBI) in Cambridge, England.

In the early days of bioinformatics, human-readable data exchange formats such as ASN.1, the format adopted for GenBank by the National Center for Biotechnology Information (NCBI) 10 years ago, were the norm. Easily editable with a text utility, ASN.1's syntactic looseness makes it congenial to the human user, but not to the machine, which likes its inputs defined with dictatorial rigidity."

redux [05.10.00]
The XML Cover Pages XML and Semantic Transparency
"We may rehearse this fundamental axiom of descriptive markup in terms of a classical SGML polemic: the doubly-delimited information objects in an SGML/XML document are described by markup in a meaningful, self-documenting way through the use of names which are carefully selected by domain experts for element type names, attribute names, and attribute values. This is true of XML in 1998, was true of SGML in 1986, and was true of Brian Reid's Scribe system in 1976. However, of itself, descriptive markup proves to be of limited relevance as a mechanism to enable information interchange at the level of the machine.

As enchanting as it is to contemplate the apparent 'semantic' clarity, flexibility, and extensibility of XML vis-à-vis HTML (e.g., how wonderfully perspicuous XML <bookTitle> seems when compared to HTML <i>), we must reckon with the cold fact that XML does not of itself enable blind interchange or information reuse. XML may help humans predict what information might lie "between the tags" in the case of <trunk> </trunk>, but XML can only help. For an XML processor, <trunk> and <i> and <booktitle> are all equally (and totally) meaningless. Yes, meaningless.

Just like its parent metalanguage (SGML), XML has no formal mechanism to support the declaration of semantic integrity constraints, and XML processors have no means of validating object semantics even if these are declared informally in an XML DTD. XML processors will have no inherent understanding of document object semantics because XML (meta-)markup languages have no predefined application-level processing semantics. XML thus formally governs syntax only - not semantics."

redux [06.22.00]
Conference : Third Annual Bio-Ontologies Meeting
"We would like to invite you to the Third Annual Bio-Ontologies Meeting (Bio-Ontologies 2000), on August 24th in La Jolla, California, USA. This is immediately after ISMB-00 August 20-23 in La Jolla.

The goal of this consortium is the identification and promotion of a practical set of technologies that will aid in the knowledge management and exchange of concepts and representations in the life sciences. The first meeting took place in Montreal in 1998, and made clear the general interest and support people had for ontologies in the life sciences. The following year in Heidelberg we discussed ontology exchange and presented ontologies currently under development.

Many in the group have been active since our last meeting. The community now has considerable experience in the development and deployment of ontologies in the life sciences, so it is appropriate for us to take stock and reflect. So the theme for this year's meeting is Sharing Experiences and Spreading Best Practice. The idea is that we share not only the results of our labours but how we got there, and what we wished we had known while we did it."

redux [05.01.00]
Stanford Medical Informatics Preprint Archive Ontology-Oriented Design and Programming
"In the construction of both conventional software and intelligent systems, developers continue to seek higher level abstractions that both can aid in conceptual modeling and can assist in implementation and maintenance. In recent years, the artificial intelligence community has placed considerable attention on the notion of explicit ontologies -- shared conceptualizations of application areas that define the salient concepts and relationships among concepts. Such ontologies, when joined with well defined problem-solving methods, provide convenient formalisms for modeling and for implementing solutions to application tasks. This chapter reviews the motivation for seeking such high-level abstractions, and summarizes recent successes in building systems from reusable domain ontologies and problem-solving methods. As the environment for software execution moves from individual workstations to the Internet at large, casting new software applications in terms of these high-level abstractions may make complex systems both easier to build and easier to maintain. "
Gene Ontology Consortium
"This is the home of the Gene Ontology Consortium. The goal of the Gene Ontology consortium is to produce a dynamic controlled vocabulary that can be applied to all eukaryotes even as knowledge of gene and protein roles in cells is accumulating and changing."

"The three organising principles of GO are molecular function, biological process and cellular component. A gene product has one or more molecular functions and is used in one or more biological processes; it may be, or may be associated with, one or more cellular components."

[ rhetoric ]

Bioinformatics will be at the core of biology in the 21st century. In fields ranging from structural biology to genomics to biomedical imaging, ready access to data and analytical tools are fundamentally changing the way investigators in the life sciences conduct research and approach problems. Complex, computationally intensive biological problems are now being addressed and promise to significantly advance our understanding of biology and medicine. No biological discipline will be unaffected by these technological breakthroughs.


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