WinBUGS – A Bayesian modelling framework: Concepts, structure, and extensibility
Statistics and Computing
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The use of sequencing technologies has revolutionized the field of genomics, allowing us to study structural and functional variations within the genome to base pair level. These technologies can also be used to probe the associated epigenome, where DNA-binding proteins alter the structural integrity of the genome, restricting or enabling localized gene expression in a heritable fashion. By using assays that identify the binding location of these proteins, so called 'epigenetic marks' can be used to discover and correlate molecular functions and phenotypes being studied. As such 'epigenetic marks' are inherently plastic in their nature, being easily perturbed by environmental stimuli, they are a compelling and important area of study in the context of human development and diseases. One of the most commonly studied epigenetic marks is DNA methylation: attachment of the methyl group to cytosines in CpG dinucleotides -- an occurrence where two cytosine nucleotides are immediately followed by two guanine nucleotides in tandem. This modification can directly block the binding of regulatory proteins to that specific location thus effectively 'silencing' transcriptional activities. There are roughly 2.8 million such CpG loci in a human genome, making it an excellent target for performing a genome-wide methylation assay using sequencing technologies.