PATH3305 Lecture Notes Compiled and Simplified

Description

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 * NGS * 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