Semester 1, 2018

PATH3305 Lecture Notes Compiled and Simplified

160 pages

20,000 words




I was fed up with the way that information was presented in the lectures. I found that information was repeated, broken up and incomplete. SO I decided to rewrite the content in the style of lecture notes!
- Includes all weeks
- Useful diagrams and images
- Colours and textboxes for easy memorisation

Topics: complete
* Organisation of the human genome
* Human variation in health and disease
* Nature and mechanism of mutations in the genome
* Cytogenomics
* Community and population genetics
* Detecting genetic variation
* Phenotypic consequences of genomic variants
* CNVs
* Cytogenetics of cancer
* Diagnostic strategies
* Pharmacogenetics
* Rare lipid disorders
* Molecular diagnosis and gene discovery
* Skeletal muscle diseases
* Mitochondrial genetics and diseases
* Epigenetics
* Psychiatric genetics
* Newborn screening and diseases