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Bioinformatics
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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.”
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Bioinformatics
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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