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  • 1
    Online Resource
    Online Resource
    Newark :John Wiley & Sons, Incorporated,
    Keywords: Genomics -- Automation. ; Electronic books.
    Type of Medium: Online Resource
    Pages: 1 online resource (341 pages)
    Edition: 1st ed.
    ISBN: 9780470741177
    DDC: 572/.6
    Language: English
    Note: Intro -- Automation in Proteomics and Genomics -- Contents -- Preface -- List of Contributors -- About the Editors -- SECTION 1 FUNDAMENTALS OF MOLECULAR AND CELLULAR BIOLOGY -- 1 The Central Dogma: From DNA to RNA, and to Protein -- 2 Genomes to Proteomes -- SECTION 2 ANALYSIS VIA AUTOMATION -- 3 High-Throughput DNA Sequencing -- 4 Modeling a Regulatory Network Using Temporal Gene Expression Data: Why and How? -- 5 Automated Prediction of Protein Attributes and Its Impact on Biomedicine and Drug Discovery -- 6 Molecular Interaction Networks: Topological and Functional Characterizations -- SECTION 3 DESIGN VIA AUTOMATION -- 7 DNA Synthesis -- 8 Computational and Experimental RNA Nanoparticle Design -- 9 New Paradigms in Droplet-Based Microfluidics and DNA Amplification -- 10 Synthetic Networks -- SECTION 4 INTEGRATION -- 11 Molecular Modeling of CYP Proteins and its Implication for Personal Drug Design -- 12 Recent Progress of Bioinformatics in Membrane Protein Structural Studies -- 13 Trends in Automation for Genomics and Proteomics -- Index.
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  • 2
    Online Resource
    Online Resource
    Newark :John Wiley & Sons, Incorporated,
    Keywords: Bioinformatics. ; Electronic books.
    Type of Medium: Online Resource
    Pages: 1 online resource (397 pages)
    Edition: 1st ed.
    ISBN: 9780470669709
    DDC: 572.80285
    Language: English
    Note: Intro -- Knowledge-Based Bioinformatics -- Contents -- Preface -- List of Contributors -- PART I FUNDAMENTALS -- Section 1 Knowledge-Driven Approaches -- 1 Knowledge-based bioinformatics -- 1.1 Introduction -- 1.2 Formal reasoning for bioinformatics -- 1.3 Knowledge representations -- 1.4 Collecting explicit knowledge -- 1.5 Representing common knowledge -- 1.6 Capturing novel knowledge -- 1.7 Knowledge discovery applications -- 1.8 Semantic harmonization: the power and limitation of ontologies -- 1.9 Text mining and extraction -- 1.10 Gene expression -- 1.11 Pathways and mechanistic knowledge -- 1.12 Genotypes and phenotypes -- 1.13 The Web's role in knowledge mining -- 1.14 New frontiers -- 1.14.1 Requirements for linked knowledge discovery -- 1.14.2 Information aggregation -- 1.14.3 The Linked Open Data initiative -- 1.14.4 Information articulation -- 1.14.5 Next-generation knowledge discovery -- 1.15 References -- 2 Knowledge-driven approaches to genome-scale analysis -- 2.1 Fundamentals -- 2.1.1 The genomic era and systems biology -- 2.1.2 The exponential growth of biomedical knowledge -- 2.1.3 The challenges of finding and interacting with biomedical knowledge -- 2.2 Challenges in knowledge-driven approaches -- 2.2.1 We need to read -- development of automatic methods to extract data housed in the biomedical literature -- 2.2.2 Implicit and implied knowledge -- the forgotten data source -- 2.2.3 Humans are visual beings: so should their knowledge be -- 2.3 Current knowledge-based bioinformatics tools -- 2.3.1 Enrichment tools -- 2.3.2 Integration and expansion: from gene lists to networks -- 2.3.3 Expanding the concept of an interaction -- 2.3.4 A systematic failure to support advanced scientific reasoning -- 2.4 3R systems: reading, reasoning and reporting the way towards biomedical discovery. , 2.4.1 3R knowledge networks populated by reading and reasoning -- 2.4.2 Implied association results in uncertainty -- 2.4.3 Reporting: using 3R knowledge networks to tell biological stories -- 2.5 The Hanalyzer: a proof of 3R concept -- 2.6 Acknowledgements -- 2.7 References -- 3 Technologies and best practices for building bio-ontologies -- 3.1 Introduction -- 3.2 Knowledge representation languages and tools for building bio-ontologies -- 3.2.1 RDF (resource description framework) -- 3.2.2 OWL (Web ontology language) -- 3.2.3 OBO format -- 3.3 Best practices for building bio-ontologies -- 3.3.1 Define the scope of the bio-ontology -- 3.3.2 Identity of the represented entities -- 3.3.3 Commit to agreed ontological principles -- 3.3.4 Knowledge acquisition -- 3.3.5 Ontology Design Patterns (ODPs) -- 3.3.6 Ontology evaluation -- 3.3.7 Documentation -- 3.4 Conclusion -- 3.5 Acknowledgements -- 3.6 References -- 4 Design, implementation and updating of knowledge bases -- 4.1 Introduction -- 4.2 Sources of data in bioinformatics knowledge bases -- 4.2.1 Data added by internal curators -- 4.2.2 Data submitted by external users and collaborators -- 4.2.3 Data added automatically -- 4.3 Design of knowledge bases -- 4.3.1 Understanding your end users and understanding their data -- 4.3.2 Interactions and interfaces: their impact on design -- 4.4 Implementation of knowledge bases -- 4.4.1 Choosing a database architecture -- 4.4.2 Good programming practices -- 4.4.3 Implementation of interfaces -- 4.5 Updating of knowledge bases -- 4.5.1 Manual curation and auto-annotation -- 4.5.2 Clever pipelines and data flows -- 4.5.3 Lessening data maintenance overheads -- 4.6 Conclusions -- 4.7 References -- Section 2 Data-Analysis Approaches -- 5 Classical statistical learning in bioinformatics -- 5.1 Introduction -- 5.2 Significance testing. , 5.2.1 Multiple testing and false discovery rate -- 5.2.2 Correlated errors -- 5.3 Exploratory analysis -- 5.3.1 Clustering -- 5.3.2 Principal components -- 5.3.3 Multidimensional scaling (MDS) -- 5.4 Classification and prediction -- 5.4.1 Discriminant analysis -- 5.4.2 Modern procedures -- 5.5 References -- 6 Bayesian methods in genomics and proteomics studies -- 6.1 Introduction -- 6.2 Bayes theorem and some simple applications -- 6.3 Inference of population structure from genetic marker data -- 6.4 Inference of protein binding motifs from sequence data -- 6.5 Inference of transcriptional regulatory networks from joint analysis of protein-DNA binding data and gene expression data -- 6.6 Inference of protein and domain interactions from yeast two-hybrid data -- 6.7 Conclusions -- 6.8 Acknowledgements -- 6.9 References -- 7 Automatic text analysis for bioinformatics knowledge discovery -- 7.1 Introduction -- 7.1.1 Knowledge discovery through text mining -- 7.1.2 Need for processing biomedical texts -- 7.1.3 Developing text mining solutions -- 7.2 Information needs for biomedical text mining -- 7.2.1 Efficient analysis of normalized information -- 7.2.2 Interactive seeking of textual information -- 7.3 Principles of text mining -- 7.3.1 Components -- 7.3.2 Methods -- 7.4 Development issues -- 7.4.1 Information needs -- 7.4.2 Corpus construction -- 7.4.3 Language analysis -- 7.4.4 Integration framework -- 7.4.5 Evaluation -- 7.5 Success stories -- 7.5.1 Interactive literature analysis -- 7.5.2 Integration into bioinformatics solutions -- 7.5.3 Discovery of knowledge from the literature -- 7.6 Conclusion -- 7.7 References -- PART II APPLICATIONS -- Section 3 Gene and Protein Information -- 8 Fundamentals of gene ontology functional annotation -- 8.1 Introduction -- 8.1.1 Data submission curation -- 8.1.2 Value-added curation -- 8.2 Gene Ontology (GO). , 8.2.1 Gene Ontology and the annotation of the human proteome -- 8.2.2 Gene Ontology Consortium data sets -- 8.2.3 GO annotation methods -- 8.2.4 Different approaches to manual annotation -- 8.2.5 Ontology development -- 8.3 Comparative genomics and electronic protein annotation -- 8.3.1 Manual methods of transferring functional annotation -- 8.3.2 Electronic methods of transferring functional annotation -- 8.3.3 Electronic annotation methods -- 8.4 Community annotation -- 8.4.1 Feedback forms -- 8.4.2 Wiki pages -- 8.4.3 Community annotation workshops -- 8.5 Limitations -- 8.5.1 GO cannot capture all relevant biological aspects -- 8.5.2 The ontology is always evolving -- 8.5.3 The volume of literature -- 8.5.4 Missing published data -- 8.5.5 Manual curation is expensive -- 8.6 Accessing GO annotations -- 8.6.1 Tools for browsing the GO -- 8.6.2 Functional classification -- 8.6.3 GO slims -- 8.6.4 GO displays in other databases -- 8.7 Conclusions -- 8.8 References -- 9 Methods for improving genome annotation -- 9.1 The basis of gene annotation -- 9.1.1 Introduction to gene annotation -- 9.1.2 Progression in ab initio gene prediction -- 9.1.3 Annotation based on transcribed evidence -- 9.1.4 A comparison of annotation processes -- 9.1.5 The CCDS project -- 9.1.6 Pseudogene annotation -- 9.1.7 The annotation of non-coding genes -- 9.2 The impact of next generation sequencing on genome annotation -- 9.2.1 The annotation of multispecies genomes -- 9.2.2 Community annotation -- 9.2.3 Alternative splicing and new transcriptomics data -- 9.2.4 The annotation of human genome variation -- 9.2.5 The annotation of polymorphic gene families -- 9.3 References -- 10 Sequences from prokaryotic, eukaryotic, and viral genomes available clustered according to phylotype on a Self-Organizing Map -- 10.1 Introduction. , 10.2 Batch-learning SOM (BLSOM) adapted for genome informatics -- 10.3 Genome sequence analyses using BLSOM -- 10.3.1 BLSOMs for 13 eukaryotic genomes -- 10.3.2 Diagnostic oligonucleotides for phylotype-specific clustering -- 10.3.3 A large-scale BLSOM constructed with all sequences available from species-known genomes -- 10.3.4 Phylogenetic estimation for environmental DNA sequences and microbial community comparison using the BLSOM -- 10.3.5 Reassociation of environmental genomic fragments according to species -- 10.4 Conclusions and discussion -- 10.5 References -- Section 4 Biomolecular Relationships and Meta-Relationships -- 11 Molecular network analysis and applications -- 11.1 Introduction -- 11.2 Topology analysis and applications -- 11.2.1 Global structure of molecular networks: scale-free, small-world, disassortative, and modular -- 11.2.2 Network statistics/measures -- 11.2.3 Applications of topology analysis -- 11.2.4 Challenges and future directions of topology analysis -- 11.3 Network motif analysis -- 11.3.1 Motif analysis: concept and method -- 11.3.2 Applications of motif analysis -- 11.3.3 Challenges and future directions of motif analysis -- 11.4 Network modular analysis and applications -- 11.4.1 Density-based clustering methods -- 11.4.2 Partition-based clustering methods -- 11.4.3 Centrality-based clustering methods -- 11.4.4 Hierarchical clustering methods -- 11.4.5 Applications of modular analysis -- 11.4.6 Challenges and future directions of modular analysis -- 11.5 Network comparison -- 11.5.1 Network comparison algorithms: from computer science to systems biology -- 11.5.2 Network comparison algorithms for molecular networks -- 11.5.3 Applications of molecular network comparison -- 11.5.4 Challenges and future directions of network comparison -- 11.6 Network analysis software and tools -- 11.7 Summary. , 11.8 Acknowledgement.
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  • 3
    ISSN: 1600-065X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary: Under selective pressure from infectious microorganisms, multicellular organisms have evolved immunological defense mechanisms, broadly categorized as innate or adaptive. Recent insights into the complex mechanisms of human innate immunity suggest that genetic variability in genes encoding its components may play a role in the development of asthma and related diseases. As part of a systematic assessment of genetic variability in innate immunity genes, we have thus far have examined 16 genes by resequencing 93 unrelated subjects from three ethnic samples (European American, African American and Hispanic American) and a sample of European American asthmatics. Approaches to discovering and understanding variation and the subsequent implementation of disease association studies are described and illustrated. Although highly conserved across a wide range of species, the innate immune genes we have sequenced demonstrate substantial interindividual variability predominantly in the form of single nucleotide polymorphisms (SNPs). Genetic variation in these genes may play a role in determining susceptibility to a range of common, chronic human diseases which have an inflammatory component. Differences in population history have produced distinctive patterns of SNP allele frequencies, linkage disequilibrium and haplotypes when ethnic groups are compared. These and other factors must be taken into account in the design and analysis of disease association studies.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature genetics 37 (2005), S. 435-440 
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Sickle cell anemia (SCA) is a paradigmatic single gene disorder caused by homozygosity with respect to a unique mutation at the β-globin locus. SCA is phenotypically complex, with different clinical courses ranging from early childhood mortality to a virtually unrecognized condition. Overt ...
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Advances in health sciences education 2 (1997), S. 131-140 
    ISSN: 1573-1677
    Keywords: artificial intelligence ; basic science ; causality ; medical ontologies ; nosological models ; truth maintenance systems
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A new generation of intelligent systems is growing up in the community of Artificial Intelligence in Medicine. The main goal of these systems is the representation and use of real theory of diseases, as they are represented in medical textbooks or in scientific articles, rather than the heuristic shortcuts of human experts. In this paper, we will argue that the difficulties in the integration of basic science and clinical knowledge in intelligent systems arise from ontological differences between these kinds of knowledge and that the solution can be found in their dynamic integration during the reasoning process. In order to illustrate this point, we will first describe an epistemological analysis of the interplay between basic science knowledge and clinical knowledge, and then we will provide the example of a computational architecture implementing this view.
    Type of Medium: Electronic Resource
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