1. Bioinformatics Kick Ass Cool Stuff

2. 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

4. ? What is a genome ? Total amount of the DNA found within one complete set of chromosomes M. Cummings, 2000 ? How much DNA is in the human genome ? 3 billion base pairs of DNA

5. ?Size of the Human Genome? GenBank has over 30 billion bases and is doubling every year How do we access and analyze the data? ?What are the challenges? 10 sets of encyclopedias, 32 volumes each, but only 4 letters: ATGC

6. Background Info on the HGP Begun in 1990 15 year project

7. Background Info on the HGP Federal and private funding Multinational project DOE and NIH at an estimated cost of $3 billion.

8. 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,

9. M. Cummings, 2000

10. Mapped Human Diseases M. Cummings, 2000 Chromosome 4Chromosome 17 Huntington diseaseBreast cancer (BRCA1) Chromosome 5 Chromosome 19 Familial polyposisMyotonic dystrophy Chromosome 7 Chromosome 21 Cystic fibrosisAmyotrophic lat. sclerosis Chromosome 13X Chromosome RetinoblastomaDuchene Musc. dystrophy Fragile-X syndrome Chromosome 13 Polycystic kidney disease

11. 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

12. Disease Identification: Microarray Technology Hartl and Jones, 2000

13. Benefits of HGP: Microbial Genomics N ew energy sources (biofuels) E nvironmental monitoring to detect pollutants P rotection from biological and chemical warfare T oxic waste cleanup http://www.ornl.gov/hgmis/project/benefits.html

14. 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

15. Agriculture Livestock Breeding (MARC) Bioprocessing http://www.ornl.gov/hgmis/project/benefits.html Other benefits of HGP