1. Megan Outten

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. DNA then breaks down into the four nitrogenous
bases: Adenine, Guanine, Thymine, Cytosine

4. Genome = genetic blueprint

5. Sequencing the genome, then, is simply
determining the order of nitrogenous bases
that make up the DNA that comprises genes3

7. Genes specify traits:
hair color
eye color
…disease?

8. 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

9. http://www.youtube.com/watch?v=PnpEqHDcz
Nk

10. 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

11. Charcot-Marie-Tooth neuropathy5
-loss of sensation/reflexes in limbs
-muscle atrophy
Miller syndrome6,7
-underdeveloped cheekbones
-abnormally small jaw
-cleft palate

12.  Identification and Treatment
In utero
Preventive drugs
 Other Diseases
Depends on genetic variations

13. 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>

14. 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>