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Brandon Goldblatt

TA:Gillian Kaye
Thursday, April 28, 2011

Integrating common and rare genetic variation in

diverse human populations
In this experiment the biologist were trying to identify less common variants that
influence human disease. Many different types of variations have been discovered but there
is still much more to know, this experiment helped find information about rare genetic
variants in certain populations. they came to there conclusions by gathering genetic
information about many different types of genetic variants. this included gathering
information on 1.6 million different single nucleotide polymorphisms or SNPs. They then
addend SNPs with a frequency of occurrence lower then 5% to the main population and the
set of data was then called HapMap 3. They found that it was feasible to add these newly
discovered less common genes into the greater group of genes. they also saw that With
improvements in sequencing technology, low-frequency variation is becoming increasingly
accessible and they can furthur there research. They did this so they can eventually have a
better understanding of the human genome.
This year in biology we learnt all about how human genes are created and used in the
body. We learnt the make up of DNA and how SNPs were used in the process of creating
protein from DNA information. the experiment used many familiar terms and ideas used in
our classes. One of the main terms used the most in this article that we learnt was single
nucleotide polymorphisms or SNPs which is a DNA nucleotide with a variation in usually
one nucleotide. My biology studies also helped me understand the big picture of the article
and why there finding were important. I knew that exploring the human genome is very
important because it can lead to discoveries that can help people such as curing diseases and
identifying bad traits that cause health problems.
The experiment focused on how these SNPs concentration varied in certain
populations. There were many points in the article that I was unsure about such as the details
on how the SNPs were gathered and what types of methods were used to organize and
compare them. Also there were also many statistical problems involved that I was confused
by. Also they referenced different codons that I did not know what there functions were.
Overall what i learnt in biology helped me understand the journal article and I look forward
to learning and reading more on this topic.

Pakstis, Andrew, Speed William, Fang Rixun, Hyland Fiona, Furtado Manohar, Judith Kidd,
and Kenneth Kidd. "Integrating Common and Rare Genetic Variation in Diverse Human
Populations : Nature : Nature Publishing Group." Nature Publishing Group : Science
Journals, Jobs, and Information. Springer Berlin / Heidelberg, 1 Mar. 2010. Web. 21 Mar.
2011. <>.