This module introduces the structure and variation in human genomics, the fundamental principles of genetics and genomics, and the architecture of the human genome, including the functional units embedded in it.
Explore DNA sequence variation, how variation arises and its extent in populations, for example information produced by the HapMap project, designed to find genetic variants affecting health, disease and responses to drugs and environmental factors.
Learn from leading experts in genomics about:
- Aspects of gene regulation and chromatin structure, and the importance of genotype to phenotype correlation.
- DNA replication, transcription and translation, cell division (mitosis, meiosis) and recombination.
- Gene regulation: enhancers, promoters, transcription factors, silencers and the role of epigenetics.
- DNA sequence variation, type and frequency, for example single nucleotide variants (SNVs), small insertions and deletions (indels), copy number variation (CNVs), rearrangements and tandem repeats.
- Mutational mechanisms: how different types of DNA variants, including epigenetics and imprinting, affect gene function or expression to cause disease.
- Correlation of genotype with phenotype, including penetrance and variation in expression.
- Concepts of heterogeneity and pleiotropy.
- Modes of inheritance for clinical manifestation of human variation.
By the end of this module you will be able to:
- Explain core elements of genome architecture, including the properties of DNA and chromatin structure.
- Critically evaluate the regulation of gene expression, transcription and translation.
- Interpret variation in genome structure and sequence in the context of physiological function and disease and across human populations.
- Describe the correlation between genotype and phenotype.