Genetics in medicine
Links:
Status: S1LectNotes Time: 2025-03-13 Tags: lecturenotes Links:
Content:
Objectives: purpose to see what tools there are and what they do
what is genomics good for in the clinic human genetic variation - how much and where the genomics toolbox - what is in it genomics for aotearoa - what is over the horizon what skills and knowledge will future proof me in genetics for a career in medicine
Take home: making meaningful risk scores precision scores underpinned by genetic risk scores allows individual treatment recommendation
Things to note:
Rambles: compares what could be done in the past for a number of patients vs now
genetics can enhance the relibility of pedigree charts
risk calculated from pedigree if there is a woman at risk they are examined genes are targeted for sequenceing conclusions and action
how can you tell a mutations when you see one
where is it in the gene what does the sequence variation alter has it been observed prior
chromosomal micro array
exome sequencing
making meaningful risk scores precision scores underpinned by genetic risk scores allows individual treatment reccomendation