Genomics

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Genomics

  1. 1. Megan Outten
  2. 2. What is the genome? 1. A full set of chromosomes 2. The full complement of genetic material within an organism1 The genome is divided into chromosomes, chromosomes contain genes, and genes are made of DNA2
  3. 3. DNA then breaks down into the four nitrogenous bases: Adenine, Guanine, Thymine, Cytosine
  4. 4. Genome = genetic blueprint
  5. 5. Sequencing the genome, then, is simply determining the order of nitrogenous bases that make up the DNA that comprises genes3
  6. 6. Genes specify traits: hair color eye color …disease?
  7. 7. Until recently, the cost to sequence one person’s entire genome was in the billions4 That number having decreased, scientists have been able to study DNA variations within an entire family Reduction in cost has allowed researchers to explore the entire genome
  8. 8. http://www.youtube.com/watch?v=PnpEqHDcz Nk
  9. 9. Genome sequencing can uncover mutations responsible for diseases caused by defects in a single gene “There are literally hundreds, if not thousands, of diseases falling into this category”4
  10. 10. Charcot-Marie-Tooth neuropathy5 -loss of sensation/reflexes in limbs -muscle atrophy Miller syndrome6,7 -underdeveloped cheekbones -abnormally small jaw -cleft palate
  11. 11.  Identification and Treatment In utero Preventive drugs  Other Diseases Depends on genetic variations
  12. 12. 1. “Genome”. Dictionary.com, LLC. (2011). Accessed 24 April 2011. Retrieved from <www.dictionary.com/genome> 2. “What’s a Genome?”. Genome News Network. J Craig Venter Institute. (2003). Accessed 24 April 2011. Retrieved from <http://www.genomenewsnetwork.org/resources/whats_a_genome/Chp1_1_1.sh tml#genome1> 3. “Facts About Genome Sequencing”. BERIS. Human Genome Project Information. (2008). Accessed 24 April 2011. Retrieved from <http://www.ornl.gov/sci/techresources/Human_Genome/faq/seqfacts.shtml> 4. McAuliffe, Kathleen. “Family Genomics Links DNA to Disease”. Discover Magazine. (2010). 5. “Charco-Marie-Tooth disease”. A.D.A.M. (2009). Accessed 24 April 2011. Retrieved from <http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001741/> 6. “Miller Syndrome”. National Craniofacial Association. (2011). Accessed 24 April 2011. Retrieved from <http://www.faces-cranio.org/Disord/Miller.htm> 7. Roach, Glusman, Smit, Huff, Hubley, Shannon, Rowan, Pant, Goodman, Bamshad, Shendure, Drmanac, Jorde, Good, Galas. “Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing”. Science Magazine. (2010). Accessed 24 April 2011. Retrieved from <http://www.sciencemag.org/content/328/5978/636.short>
  13. 13. Slide 3: <http://www.genomenewsnetwork.org/resources/whats_a_genome/Chp2_1.shtml> Slide 4: <http://www.genomenewsnetwork.org/resources/whats_a_genome/Chp2_1.shtml#> Slide 6: <http://www.google.com/imgres?imgurl=http://content2.myyearbook.com/zenhex/images/quiz8 0/398978/398978_res1_BlueEyes.jpg&imgrefurl=http://www.myyearbook.com/%3Fmysession%3Dc mVnaXN0cmF0aW9uX3Byb2ZpbGUmdXNlcmlkPTE4OTI1OTIy&usg=__gQ- jBXPUJGSZSOFCNcPonY16K0c=&h=200&w=300&sz=10&hl=en&start=79&sig2=LzPKYUc3Hd6pcf0NzU7 p-Q&zoom=1&tbnid=Z6UaUnk2Um1XrM:&tbnh=127&tbnw=145&ei=XtG0TYnGCYe2twfWl- jpDg&prev=/search%3Fq%3Dblue%2Beyes%26hl%3Den%26safe%3Doff%26biw%3D1280%26bih%3D597%2 6gbv%3D2%26tbm%3Disch0%2C1710&itbs=1&iact=hc&vpx=880&vpy=304&dur=291&hovh=129&hovw= 194&tx=131&ty=82&page=5&ndsp=21&ved=1t:429,r:5,s:79&biw=1280&bih=597> <http://www.google.com/imgres?imgurl=http://www.oliviajeansalon.com/blog/wp- content/uploads/2010/08/2006-long- red.jpg&imgrefurl=http://www.oliviajeansalon.com/blog/2010/08/hair-myths- legends/&usg=__bC_b- OLzpHWMZcIEks_PyLLlBiY=&h=536&w=402&sz=68&hl=en&start=0&sig2=SqMescU48Y0CClIDqfE- IQ&zoom=1&tbnid=wNwBnfPTbRFegM:&tbnh=128&tbnw=96&ei=p9G0TcDlLNOutwfSzNTpDg&prev=/i mages%3Fq%3Dred%2Bhair%26hl%3Den%26safe%3Doff%26biw%3D1280%26bih%3D597%26gbv%3D2%26t bm%3Disch&itbs=1&iact=rc&dur=376&page=1&ndsp=29&ved=1t:429,r:2,s:0&tx=18&ty=47>

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