• Human genome consists of >3 billion base pairs
  • Organised into 20,000 genes
  • Took approximately 13 years to sequence the entire genome
  • It was accomplished using bioinformatics (the science of collecting and analysing complex biological data i.e. genetic codes)

Project aims:

  • Identify all the genes of the human genome
  • Determine locus of genes
  • Determine sequence of base pairs that make up human DNA
  • Functions of different genes
  • Publish results for free use

DNA Sequencing

  • Determining the complete DNA base sequence utilises Whole-Genome Shotgun (WGS) sequencing.
  • DNA is cut into small pieces
  • Each smaller section is easily sequenced
  • Computer algorithms align overlapping segments to assemble entire genome

Single Nucleotides Polymorphisms (SNPs)

  • Most common type of genetic variation among people
  • Each SNP represents a difference in a nucleotide
  • The location of these SNPs on the DNA sequence allows for genetic screenings of these known areas so if a person is a carrier it can be easily determined (without having to sequence the entire human genome again)

The Proteome

  • The entire set of proteins expressed by a genome at a given type of cell or organism at a given time under specified conditions
  • b. not all genes, and therefore not all proteins are produced, and are therefore excluded

Human Genome Map

  • All the DNA found in the human is located on the

Human Microbiome Project

  • Aimed to map and identifying the microorganisms which are found in association with both healthy and diseased humans