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Mining Biomedical Data Using MetaMap Transfer (MMTx) and the Unified Medical Language System (UMLS)

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  1. Protocol

    Application of ProteinChip Array Profiling in Serum Biomarker Discovery for Patients Suffering From Severe Acute Respiratory Syndrome

    A new strain of coronavirus has caused an outbreak of severe acute respiratory syndrome (SARS) from 2002 to 2003 resulting in 774 deaths worldwide. By protein chip array profiling technology, a number of serum...

    Timothy T. C. Yip, William C. S. Cho, Wai Wai Cheng, Johnny W. M. Chan in Microarrays (2007)

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    Predicting Synthetic Gene Networks

    Synthetic biology aims at designing and building new biological functions in living organisms. The complexity of cellular regulation (regulatory, metabolic, and signaling interactions, and their coordinated ac...

    Diego di Bernardo, Lucia Marucci, Filippo Menolascina in Synthetic Gene Networks (2012)

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    Computational Design of Artificial RNA Molecules for Gene Regulation

    RNA interference (RNAi) is a powerful tool for the regulation of gene expression. Small exogenous noncoding RNAs (ncRNAs) such as siRNA and shRNA are the active silencing agents, intended to target and cleave ...

    Alessandro Laganà, Dario Veneziano, Francesco Russo in RNA Bioinformatics (2015)

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    Erratum to: Classification and Clustering on Microarray Data for Gene Functional Prediction Using R

    Liliana López Kleine, Rosa Montaño, Francisco Torres-Avilés in Microarray Data Analysis (2016)

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    Taking Bioinformatics to Systems Medicine

    Systems medicine promotes a range of approaches and strategies to study human health and disease at a systems level with the aim of improving the overall well-being of (healthy) individuals, and preventing, di...

    Antoine H. C. van Kampen, Perry D. Moerland in Systems Medicine (2016)

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    Systems Medicine for Lung Diseases: Phenotypes and Precision Medicine in Cancer, Infection, and Allergy

    Lung diseases cause an enormous socioeconomic burden. Four of them are among the ten most important causes of deaths worldwide: Pneumonia has the highest death toll of all infectious diseases, lung cancer kill...

    Bernd Schmeck, Wilhelm Bertrams, **n Lai, Julio Vera in Systems Medicine (2016)

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    Erratum to: Sequence Segmentation with changeptGUI

    Edward Tasker, Jonathan M. Keith in Bioinformatics (2017)

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    Evaluating Computational Gene Ontology Annotations

    Two avenues to understanding gene function are complementary and often overlap**: experimental work and computational prediction. While experimental annotation generally produces high-quality annotations, it...

    Nives Škunca, Richard J. Roberts, Martin Steffen in The Gene Ontology Handbook (2017)

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    Get GO! Retrieving GO Data Using AmiGO, QuickGO, API, Files, and Tools

    The Gene Ontology Consortium (GOC) produces a wealth of resources widely used throughout the scientific community. In this chapter, we discuss the different ways in which researchers can access the resources o...

    Monica Munoz-Torres, Seth Carbon in The Gene Ontology Handbook (2017)

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    Gene-Category Analysis

    Gene-category analysis is one important knowledge integration approach in biomedical sciences that combines knowledge bases such as Gene Ontology with lists of genes or their products, which are often the resu...

    Sebastian Bauer in The Gene Ontology Handbook (2017)

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    Visualizing GO Annotations

    Contemporary techniques in biology produce readouts for large numbers of genes simultaneously, the typical example being differential gene expression measurements. Moreover, those genes are often richly annota...

    Fran Supek, Nives Škunca in The Gene Ontology Handbook (2017)

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    Annotation Extensions

    The specificity of knowledge that Gene Ontology (GO) annotations currently can represent is still restricted by the legacy format of the GO annotation file, a format intentionally designed for simplicity to ke...

    Rachael P. Huntley, Ruth C. Lovering in The Gene Ontology Handbook (2017)

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    The Vision and Challenges of the Gene Ontology

    The overarching goal of the Gene Ontology (GO) Consortium is to provide researchers in biology and biomedicine with all current functional information concerning genes and the cellular context under which thes...

    Suzanna E. Lewis in The Gene Ontology Handbook (2017)

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    Primer on Ontologies

    As molecular biology has increasingly become a data-intensive discipline, ontologies have emerged as an essential computational tool to assist in the organisation, description and analysis of data. Ontologies ...

    Janna Hastings in The Gene Ontology Handbook (2017)

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    Complementary Sources of Protein Functional Information: The Far Side of GO

    The GO captures many aspects of functional annotations, but there are other alternative complementary sources of protein function information. For example, enzyme functional annotations are described in a rang...

    Nicholas Furnham in The Gene Ontology Handbook (2017)

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    Primer on the Gene Ontology

    The Gene Ontology (GO) project is the largest resource for cataloguing gene function. The combination of solid conceptual underpinnings and a practical set of features have made the GO a widely adopted resourc...

    Pascale Gaudet, Nives Škunca, James C. Hu in The Gene Ontology Handbook (2017)

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    How Does the Scientific Community Contribute to Gene Ontology?

    Collaborations between the scientific community and members of the Gene Ontology (GO) Consortium have led to an increase in the number and specificity of GO terms, as well as increasing the number of GO annota...

    Ruth C. Lovering in The Gene Ontology Handbook (2017)

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    Semantic Similarity in the Gene Ontology

    Gene Ontology-based semantic similarity (SS) allows the comparison of GO terms or entities annotated with GO terms, by leveraging on the ontology structure and properties and on annotation corpora. In the last...

    Catia Pesquita in The Gene Ontology Handbook (2017)

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    A Gene Ontology Tutorial in Python

    This chapter is a tutorial on using Gene Ontology resources in the Python programming language. This entails querying the Gene Ontology graph, retrieving Gene Ontology annotations, performing gene enrichment a...

    Alex Warwick Vesztrocy, Christophe Dessimoz in The Gene Ontology Handbook (2017)

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    The Evidence and Conclusion Ontology (ECO): Supporting GO Annotations

    The Evidence and Conclusion Ontology (ECO) is a community resource for describing the various types of evidence that are generated during the course of a scientific study and which are typically used to suppor...

    Marcus C. Chibucos, Deborah A. Siegele, James C. Hu in The Gene Ontology Handbook (2017)

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