
Bioinformatics Kick Ass Cool Stuff
Bioinformatics • Def.: where the rubber meets the road (i.e., where computer science meets biology) • "The mathematical, statistical and computing methods that aim to solve biological problems using DNA and amino acid sequences and related information.” • Central Dogma: • DNA -----> RNA -----> protein
? What is a genome ? Total amount of the DNA found within one complete set of chromosomes ? How much DNA is in the human genome ? • 3 billion base pairs of DNA M. Cummings, 2000
?Size of the Human Genome? • 10 sets of encyclopedias, 32 volumes each, but only 4 letters: ATGC ?What are the challenges? • GenBank has over 30 billion bases and is doubling every year • How do we access and analyze the data?
Background Info on the HGP • Begun in 1990 • 15 year project
Background Info on the HGP • DOE and NIH at an estimated cost of $3 billion. • Federal and private funding • Multinational project
Purposes of HGP • Determine the sequences of the 3 billion chemical base pairs that make up human DNA, • Identify all the 100,000 genes in human DNA,
M. Cummings, 2000 M. Cummings, 2000
Mapped Human Diseases Chromosome 4 Chromosome 17 Huntington disease Breast cancer (BRCA1) Chromosome 5 Chromosome 19 Familial polyposis Myotonic dystrophy Chromosome 7 Chromosome 21 Cystic fibrosis Amyotrophic lat. sclerosis Chromosome 13 X Chromosome Retinoblastoma Duchene Musc. dystrophy Fragile-X syndrome Chromosome 13 Polycystic kidney disease M. Cummings, 2000
Benefits from HGP: Molecular Medicine • Earlier detection of genetic predispositions to disease • Gene therapy • Improved diagnosis of disease http://www.ornl.gov/hgmis/project/benefits.html
Disease Identification: Microarray Technology Hartl and Jones, 2000
Benefits of HGP: Microbial Genomics • New energy sources (biofuels) • Environmental monitoring to detect pollutants • Protection from biological and chemical warfare • Toxic waste cleanup http://www.ornl.gov/hgmis/project/benefits.html
Benefits of HGP:DNA Forensics (Identification) • Establish paternity and other family relationships • Identify crime and catastrophe victims • Exonerate persons wrongly accused of crimes • Identify potential suspects whose DNA may match evidence left at crime scenes http://www.ornl.gov/hgmis/project/benefits.html
Other benefits of HGP • Agriculture • Livestock Breeding (MARC) • Bioprocessing http://www.ornl.gov/hgmis/project/benefits.html