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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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, ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...