L28 - Disease Mapping
- Be able to describe the steps in a positional cloning experiment
- Be able to define the term linkage analysis and how it is used to determine location of a disease gene within the genome
- Be able to describe how linkage analysis can be used in conjunction with next generation sequencing techniques to aid in disease gene identification
- Be able to describe LOD score analysis and understand the significance of various LOD scores
- Be able to describe association analysis including the types of study design and individuals studied (families vs populations)
- Be able to describe the concept of linkage disequilibrium and how it applies to association studies
- Be able to describe the limitations of association studies, including GWAS
- Be able to describe genome wide association studies (GWAS) and how the common disease common variant hypothesis underpins GWAS
- Define and understand the concept of haplotypes and their use in GWAS
- Be able to describe what the data from a GWAS plot (broadly) means