Mapping the Genome

Bioinformatics Genetics Genetics Guide Inheritance Diseases

Domain

Contents

Genetic hierarchy

  • Living thing

  • Organs

  • Muscles & tissues

  • Cells

  • Genome

  • 23 pairs of chromosomes=46 unique chromosomes

  • Proteins

  • RNA

  • DNA

Genome 4 bases - combination of ATCG

  • Adenine - A

  • Thymine - T

  • Cytosine - C

  • Guanine - G

Human genome mapping process

  • Sequencing:

DNA is taken from human chromosomes & shredded into short segments. These are fed into automated machine that reads each biochemical "letter" on the segment

  • Assembly:

Once the segments have been read, a computer puts them together by finding overlaps & matching adjacent pieces

  • Annotation:

Armed with the full sequence, scientists look for genes (~3% of the genome). Once identified, researchers can figure out which ones make proteins that cause diseases or protect health

Main contributing organisations

  • National Human Genome Research Institute (Francis Collins)

  • Celera Genomics (Craig Venter)

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