bioinformatics field of science in which biology, computer science, and information technology merge...
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Bioinformatics
• field of science in which biology, computer science, and information technology merge to form a single discipline
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Computational Biology
• the analysis and interpretation of various types of data, including nucleotide and amino acid sequences, protein domains, and protein structures
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Human Genome Project
• International 13-year effort, formally begun in October 1990 and completed in 2003
• Discovered all the estimated 20,000-25,000 human genes and make them accessible for further biological study
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Human Genome Project History
• 1990: The DOE (Department of Energy) starts a 13-year project to map and sequence the human genome
• 1995: First bacterial genome sequenced
• 1999: First human chromosome completely sequenced
• 2001: Working draft of the human genome is published
• 2003: Project completed
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Goals of the Human Genome Project
• Goals of the Human Genome Project:– Determine the sequence of the 3 billion bases that
make up human DNA (DONE)
– Create public databases (DONE)
– Develop tools for data analysis (DONE)
– Identify all of the gene / disease relationships in human DNA (Ongoing)
– To address the ethical, legal, and social issues that arise from genome research (Ongoing)
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Applications of the Human Genome Project
• Molecular medicine – Improved diagnosis of disease – Earlier detection of genetic predispositions to disease– Rational drug design – Gene therapy and control systems for drugs – Pharmacogenomics "custom drugs"
• Energy sources and environmental applications – Use microbial genomics research to create new energy sources
(biofuels) – Use microbial genomics research to develop environmental monitoring
techniques to detect pollutants – Use microbial genomics research for safe, efficient environmental
remediation – Use microbial genomics research for carbon sequestration
(www.ornl.gov)
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Applications of the Human Genome Project
• Agriculture, livestock breeding, and bioprocessing – Disease-, insect-, and drought-resistant crops
Healthier, more productive, disease-resistant farm animals
– More nutritious produce – Biopesticides – Edible vaccines incorporated into food products– New environmental cleanup uses for plants like
tobacco
(www.ornl.gov)
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Applications of the Human Genome Project
• DNA forensics (identification) – Identify potential suspects whose DNA may match evidence left
at crime scenes – Exonerate persons wrongly accused of crimes – Identify crime and catastrophe victims – Establish paternity and other family relationships – Identify endangered and protected species as an aid to wildlife
officials (could be used for prosecuting poachers) – Detect bacteria and other organisms that may pollute air, water,
soil, and food– Match organ donors with recipients in transplant programs – Determine pedigree for seed or livestock breeds – Authenticate consumables such as caviar and wine
(www.ornl.gov)
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Applications of the Human Genome Project
• Risk assessment – Assess health damage and risks caused by radiation exposure,
including low-dose exposures – Assess health damage and risks caused by exposure to mutagenic
chemicals and cancer-causing toxins– Reduce the likelihood of heritable mutations
• Bioarchaeology, anthropology, evolution, and human migration – Study evolution through germline mutations in lineages– Study migration of different population groups based on female
genetic inheritance – Study mutations on the Y chromosome to trace lineage and migration
of males – Compare breakpoints in the evolution of mutations with ages of
populations and historical events
(www.ornl.gov)
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Applications of the Human Genome Project
Naked Science: The Human Family Tree (46:00)http://www.youtube.com/watch?v=lkexKLCak5M