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Clinical Genetics - Coggle Diagram

- - - - Looks at sequence of nucleotides
      - NGS - Next generation sequencing
        
        Parallelizes the sequence process, prodcuing thousands or millions of sequences
      - Gene panel
        
        Noonan syndrome - RASopathies
        
        Test all causative genes of phentype
      - Single gene sequencing
        
        NF1
      - Whole exome sequencing
        
        Complex phenotype
        
        Non-diagnostic panel
        
        Suspicion of >1 diagnosis
      - Whole genome sequencing
        
        Covers intronic and regulatory regionss
        
        Complete coverage of exonic regions
        
        Relatively Uniform depth of sequencing
        
        Disadvantages
        
        PRe-test probability matters in making a diagnosis
        
        Population / ethnicity limitations
        
        Cost
        
        Time
        
        Test limitations
        
        Difficult to filter
    - - Larger structures of DNA - Chromosomes
      - Karyotype
        Observe in metaphase
        
        G-band karyotype
      - Array CGH / Microarray
        
        Looks for gain or loss
      - FISH
        Flourescenet in situe hybd
        
        Tell if chromosome parts are in right place
- - - - Population frequency
      - In silico assessment
      - Functional data
      - Segragation data
      - De novo mutation
      - Variant characterisation
      - Prior occurence
      - Not always possible to prove at time of test
- - - - Mitochondria have seperate genomes and replicate seperately - number of mitochondria effected is random
      - Matters in cell with low turn over - neurons, cariomyocytes
  - - - Eg. Huntingtons (>40 repeats for phenotype)
      - Fagile X
      - Friedreichs Ataxia