Browse Hierarchy WHR7201: Introduction to Human Genomics

This module will provide clear understanding of the structure and variations in genetic material. The module aim is to deliver a solid theoretical foundation in the area of basic genetics and genomics to the participants in order to understand the study of disease genetics and how genomic information can be utilised to understand disease mechanisms and biology. The first section 'Genome Structure & Sequence variation' will review the architecture of the human genome and the functional units embedded. It will then cover DNA sequence variation and how it is structured across the genome, explaining the principles of linkage disequilibrium and its extent in human populations. The next part `Biology of Genomes' will cover in more detail aspects of gene regulation (enhancers, promoters, transcription factors, silencers) and chromatin structure (histone modifications; DNase I hypersensitive sites, open chromatin). It will then discuss genetic control of functional elements introducing the basic principles of quantitative trait loci (QTL) analyses. Under the `Association Studies¿ section participants will be introduced to the principles of correlating genetic markers to phenotype as well as the design and execution of association studies both for dichotomous and quantitative traits . Participants will learn how to critically interpret the output of association studies and the potential as well as the limitations of using such information to assess disease risk. Under the Epigenetics section participants will be introduced to DNA methylation and its implication to human disease. In the last section of this module participants will learn about integration of genetic data from an association study with genomic information to explore the biology of the investigated trait.