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Multiple Tests for Genetic Effects in Association Studies

Many common human diseases have a genetic component as measured by familial studies. Metabolic disorders such as diabetes, cardiovascular diseases such as high blood pressure, psychiatric disorders such as schizophrenia, and neurodegenerative diseases such as Alzheimer’s di ...

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Statistical Considerations in Assessing Molecular Markers for Cancer Prognosis and Treatment Efficacy

The development and growth of molecular biologic technology is leading to a new appreciation of inherent heterogeneity in cancer. While long appreciated as morphologically diverse entities, malignancies have increasingly been explored for molecular characteristics indi ...

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The Bioverse API and Web Application

The Bioverse is a framework for creating, warehousing and presenting biological information based on hierarchical levels of organisation. The framework is guided by a deeper philosophy of desiring to represent all relationships between all components of biological systems towa ...

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Processing ChIP-Chip Data: From the Scanner to the Browser

High-density tiling microarrays are increasingly used in combination with chromatin immunoprecipitation (ChIP) assays to delineate the regulation of gene expression. Besides the technical challenges inherent to such complex biological assays, a critical, often daunting ...

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Omics Technologies, Data and Bioinformatics Principles

We provide an overview on the state of the art for the Omics technologies, the types of omics data and the bioinformatics resources relevant and related to Omics. We also illustrate the bioinformatics challenges of dealing with high-throughput data. This overview touches several fundamen ...

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Data Standards for Omics Data: The Basis of Data Sharing and Reuse

To facilitate sharing of Omics data, many groups of scientists have been working to establish the relevant data standards. The main components of data sharing standards are experiment description standards, data exchange standards, terminology standards, and experiment execut ...

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Omics Data Management and Annotation

Technological Omics breakthroughs, including next generation sequencing, bring avalanches of data which need to undergo effective data management to ensure integrity, security, and maximal knowledge-gleaning. Data management system requirements include flexible inp ...

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Data and Knowledge Management in Cross-Omics Research Projects

Cross-Omics studies aimed at characterizing a specific phenotype on multiple levels are entering the �scientific literature, and merging e.g. transcriptomics and proteomics data clearly promises to improve Omics data interpretation. Also for Systems Biology the integration ...

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Statistical Analysis Principles for Omics Data

In Omics experiments, typically thousands of hypotheses are tested simultaneously, each based on very few independent replicates. Traditional tests like the t-test were shown to perform poorly with this new type of data. Furthermore, simultaneous consideration of many hypotheses, ...

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Statistical Methods and Models for Bridging Omics Data Levels

Multiple Omics datasets (for example, high throughput mRNA and protein measurements for the same set of genes) are beginning to appear more widely within the fields of bioinformatics and computational biology. There are many tools available for the analysis of single datasets but two (or mo ...

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Analysis of Time Course Omics Datasets

Over the past 20 years, Omics technologies emerged as the consensual denomination of holistic molecular profiling. These techniques enable parallel measurements of biological -omes, or “all constituents considered collectively”, and utilize the latest advancements in tran ...

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The Use and Abuse of -Omes

The diverse fields of Omics research share a common logical structure combining a cataloging effort for a particular class of molecules or interactions, the underlying -ome, and a quantitative aspect attempting to record spatiotemporal patterns of concentration, expression, or va ...

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Analysis of Single Nucleotide Polymorphisms in CaseControl Studies

Single nucleotide polymorphisms (SNPs) are the most common type of genetic variants in the human genome. SNPs are known to modify susceptibility to complex diseases. We describe and discuss methods used to identify SNPs associated with disease in case–control studies. An outline on study p ...

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Bioinformatics for Copy Number Variation Data

Copy number variation is known to be an important component of structural variation in the human genome. Greater than 1 kb in size, these gains and losses of genetic material are known to confer risk to many human diseases, both Mendelian and complex. Therefore, the technologies used to detect copy nu ...

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Power of the Rank Test for Multi-Strata Case-Control Studies with Ordinal Exposure Variables

In epidemiological studies of rare diseases (i.e., rare types of cancer) researchers often face major difficulty in obtaining enough cases of the disease to make valid comparisons using odds-ratio estimators. Moreover, they may wish to adjust for the influence of certain extraneous fact ...

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Enhanced Protein Profiling Arrays for Quantitative Measurement of Protein Expression in Multiple Samples

Simultaneous measurement of molecules from many samples is particularly useful for screening of certain molecules from different samples, for targeting verification of results obtained from protein and cDNA arrays, and for molecular epidemiology-based investigations. De ...

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Allergen Microarrays

Allergy affects more than 25% of Western populations (1) and is estimated to be the sixth leading cause of chronic disease in the United States and Western Europe. The complexity of the condition is such that hundreds of common allergens have been described, and in order to maximize diagnostic effic ...

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Multiplexed Protein Analysis Using Antibody Microarrays and Label-Based Detection

This chapter describes methods for the production and use of antibody microarrays. The experimental methods are divided into three sections. The first gives information relating to the preparation and handling of antibodies and the production of microarrays. The second relates to the ...

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Detecting Hierarchical Modularity in Biological Networks

Spatially or chemically isolated modules that carry out discrete functions are considered fundamental building blocks of cellular organization. However, detecting them in highly integrated biological networks requires a thorough understanding of the organization of the ...

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Methods for the Inference of Biological Pathways and Networks

In this chapter, we discuss a number of approaches to network inference from large-scale functional genomics data. Our goal is to describe current methods that can be used to infer predictive networks. At present, one of the most effective methods to produce networks with predictive value is the B ...

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