bioinformatics kick ass cool stuff. bioinformatics def.: where the rubber meets the road (i.e.,...
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![Page 1: Bioinformatics Kick Ass Cool Stuff. Bioinformatics Def.: where the rubber meets the road (i.e., where computer science meets biology) "The mathematical,](https://reader035.vdocuments.mx/reader035/viewer/2022062421/56649d565503460f94a34481/html5/thumbnails/1.jpg)
BioinformaticsKick Ass Cool Stuff
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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
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? 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
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?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
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Background Info on the HGP
Begun in 1990
15 year project
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Background Info on the HGP
Federal and private funding
Multinational project
DOE and NIH at an estimated cost of $3 billion.
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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,
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M. Cummings, 2000
M. Cummings, 2000
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Mapped Human Diseases
M. Cummings, 2000
Chromosome 4 Chromosome 17 Huntington diseaseHuntington disease Breast cancer (BRCA1)Breast cancer (BRCA1)
Chromosome 5 Chromosome 19 Familial polyposisFamilial polyposis Myotonic dystrophyMyotonic dystrophy
Chromosome 7 Chromosome 21 Cystic fibrosisCystic fibrosis Amyotrophic lat. sclerosisAmyotrophic lat. sclerosis
Chromosome 13 X Chromosome RetinoblastomaRetinoblastoma Duchene Musc. dystrophyDuchene Musc. dystrophy
Fragile-X syndromeFragile-X syndrome
Chromosome 13 Polycystic kidney diseasePolycystic kidney disease
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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
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Disease Identification: Microarray Technology
Hartl and Jones, 2000
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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
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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
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Agriculture
Livestock Breeding (MARC)
Bioprocessing
http://www.ornl.gov/hgmis/project/benefits.html
Other benefits of HGP