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Personal genomics, bioinformatics, and variomics

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</span><strong><span style="FONT-SIZE: 9pt">Personal Genomics</span></strong><span style="FONT-SIZE: 9pt"><br />
In 2009, genome sequencing technologies will achieve one person's whole genome per day in terms of DNA fragments sequenced. Personal genomics is a new term that utilizes such fast sequencers. In 2008, the cost for one personal genome is less than $300,000 USD. If the cost goes down below $1,000 USD, the impact of personal genomics is predicted to be the largest ever in biology&nbsp;on common people's life.&nbsp;PGP (Personal Genome Project) is a project to sequence as many people as possible with low costs </span><span style="FONT-SIZE: 9pt">(Church 2005)</span><span style="FONT-SIZE: 9pt">. Google Inc. and Church group are working together to sequence 100,000 people's genetic regions of DNA. In Saudi Arabia, the government is planning to sequence 100 Arabic people. In Europe, there are various groups of people and nations who have been genotyping the populations. Especially, Iceland has been successful in that effort by utilizing their well-kept genealogical data encompassing 100,000s people. In Asia, Jeongsun Seo of Seoul National University has been working on East Asia Genome Project in the past years. His group collected thousands of samples from Mongolian tribes with a gigantic genealogical tree among them <div style="MARGIN: 0cm 0cm 0pt 36pt; TEXT-INDENT: -36pt"><font size="2">(</font><a href="http://www.macrogen.co.kr/eng/macrogen/state.jsp"><font color="#0000ff" size="2">http://www.macrogen.co.kr/eng/macrogen/state.jsp</font></a><font size="2">)</font></div></span><span style="FONT-SIZE: 9pt">(Park et al. 2008; Sung et al. 2008)</span><span style="FONT-SIZE: 9pt">. Seo is planning on sequencing at least 100 Korean genomes in collaboration with Church and Green Cross Inc. of Korea. The aim of Seo's genome project is to produce a resource for the East Asians as well as Koreans. He is presently sequencing at least two Korean people. In China, Beijing Genome Institute has been successful in terms of sequencing. Their first achievement came from a plant genome, rice. After rice, they launched a 99 Han Chinese genome sequencing project. In Nov. 2008, they published their first Chinese genome in a magazine, Nature. In Dec. 2008, another Korean group Lee Gilyeo Cancer and Diabetes Institute and Korean Bioinformation Center (KOBIC) made a Korean genome sequence public. The genome was sequenced by Solexa paired-end sequencer and comparative genomics analyses and SNP data were uploaded as a public resource for everyone.&nbsp;<br />
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</span><strong><span style="FONT-SIZE: 9pt">Genome revolution&nbsp;</span></strong><strong><span style="FONT-SIZE: 9pt"><br />
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</span><strong><span style="FONT-SIZE: 9pt">Variomics</span></strong><span style="FONT-SIZE: 9pt"><br />
The most important scientific data out of personal genomes are the precise sequence differences among individuals. Such differences have many types.&nbsp;There are structural differences between chromosomes. There can be insertions and deletions of DNA segments. There are certain fragments that appear as repeats in genomes. Mapping all these structural genetic variations can be briefly termed as 'variomics'. A variome is the totality of genetic variation found in an individual, a population, and a species. Among all the variations we know,&nbsp;the most common one is single nucleotide polymorphisms (SNP).&nbsp;In Korea, mapping the variome has been pursued relatively early and there are several groups who are mapping the genetic variations. KOBIC has several very early stage, if not the earliest in the world, variome servers; <a href="http://variome.net/"><font color="#800080">http://variome.net</font></a> and <a href="http://variomics.net/"><font color="#0000ff">http://variomics.net</font></a>. Along with SNP variation, the copy number variation (CNV) is also important. Some recent reports tell us that CNVs can be as variable as or even more variable than SNPs that are simple DNA base changes in populations. Yeun-Jun Chung of Catholic University of Korea has been mapping CNVs among Korean people(Kim et al. 2008).</span></div><div align="left"><span style="FONT-SIZE: 9pt">In early 2005, the US FDA cleared the AmpliChip<sup>&reg;</sup> CYP450 Test, which measures variations in two genes of the CYP450 enzyme system: CYP2D6 and CYP2C19. The Roche AmpliChip CYP450 Test is intended to identify a patient's CYP2D6 and CYP2C19 genotype from genomic DNA extracted from a whole blood sample. Information about CYP2D6 and CYP2C19 genotype may be used as an aid to clinicians in determining therapeutic strategy and treatment dose for therapeutics that are metabolized by the CYP2D6 or CYP2C19 gene product.<br /></span></div>
<div align="left"><strong><span style="FONT-SIZE: 9pt">Human Variome Project (HVP)</span></strong></div>
<div align="left"><span style="FONT-SIZE: 9pt">As an international collaboration, headed by Richard Cotton, HVP was launched in 2006 (<a href="http://humanvariomeproject.org/"><font color="#0000ff">http://humanvariomeproject.org</font></a>)</span><span style="FONT-SIZE: 9pt">(Ring, Kwok et al. 2006)</span><span style="FONT-SIZE: 9pt">. HVP aims to link &nbsp;make clinicians who have been working on rare diseases, to work together with molecular biologists, and bioinformaticistsbioinformaticians. Their aim goal is to link medical information with genotype information. Succinctly this process is called genotype to phenotype mapping. As several full human genome sequences are already available, mapping phenotypes to the full genomes will be the major challenge of biology in the next 20 years.&nbsp;<br />
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</span><strong><span style="FONT-SIZE: 9pt">Asian Variome Project (AVP)</span></strong><span style="FONT-SIZE: 9pt"><br />
<div style="MARGIN: 0cm 0cm 0pt 36pt; TEXT-INDENT: -36pt"><font size="2">Gupta, P. K. (2008). &quot;Single-molecule DNA sequencing technologies for future genomics research.&quot; <u>Trends Biotechnol</u> <strong>26</strong>(11): 602-11.</font></div>
<div style="MARGIN: 0cm 0cm 0pt 36pt; TEXT-INDENT: -36pt"><font size="2">Levy, S., G. Sutton, et al. (2007). &quot;The diploid genome sequence of an individual human.&quot; <u>PLoS Biol</u> <strong>5</strong>(10): e254.</font></div>
<div style="MARGIN: 0cm 0cm 0pt 36pt; TEXT-INDENT: -36pt"><font size="2">Macrogen Inc.. from </font><a href="http://www.macrogen.co.kr/eng/macrogen/state.jsp"><font color="#0000ff" size="2">http://www.macrogen.co.kr/eng/macrogen/state.jsp</font></a><font size="2">.</font></div>
<div style="MARGIN: 0cm 0cm 0pt 36pt; TEXT-INDENT: -36pt"><font size="2">Mardis, E. R. (2008). &quot;The impact of next-generation sequencing technology on genetics.&quot; <u>Trends Genet</u> <strong>24</strong>(3): 133-41.</font></div>
<div style="MARGIN: 0cm 0cm 0pt 36pt; TEXT-INDENT: -36pt"><font size="2">Metzker, M. L. (2005). &quot;Emerging technologies in DNA sequencing.&quot; <u>Genome Res</u> <strong>15</strong>(12): 1767-76.</font></div>
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