Introduction to Genomics

​​ What is Genomics

• We know that genetics is the study of individual genes
• genomics is the idea of studying all the genes and the interactions they have with each other - the study of the genome and it’s environment
• Process
  • Get DNA from cell
  • Sequence DNA
  • Compare Sequence to a sequence of another organism

​​ Genome

• set of instructions needed to create an organism
• Stored in cells as DNA
• DNA
  • DeoxyriboNucleic Acid
  • Double helix structure, Two strands bound to one another.
  • Nucleic acid
    • A - Adenine
    • T - Thymine
    • C - Cytosine
    • G - Guanine
    • Binding of Base Pairs
      • A only binds with T
      • C only binds with G
      • Nucleotide → base pair
• What is each functional unit of DNA
  • A gene

Base pairs organised into chromosomes - pairs - 1 set from each parents

Genes - in chromosome 500-4000 per chromosome

​​ Gene Expression

• DNA gets transcribed to RNA - non-coding gets spliced out

• RNA is single strand

• RNA is translated in the ribosome into protein.

• Each group of 3 nucleotides is a codon, that codon gets translated into an amino acid.

• Amino acid is the building block of protein

• Gene Expression is the measure of how much the below process happens (how active is a gene)

​​ Variations

• From one individual to the next there are changes in base pairs. Which could reflect changes in the individual - coat color, blood type
• Variations can be due to
  • A change in a base pair
  • Base pairs missing in animal
  • Extra base pairs
  • Order of base pairs inverted or move to a different chromosome

​​ Single Nucleotide Polymorphism

• SNP
• A instance where a single base pair has been changed and at least 1% of the population must also have this base change
• How are SNPs found?
  • Sequence Comparisons - Go through the genome comparing bases between individuals
  • Easier when comparing individuals with different backgrounds