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Personal genomics, bioinformatics, and variomics

7 bytes added, 18:18, 16 December 2008
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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 />
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<div align="left"><strong><span style="FONT-SIZE: 9pt">Human Variome Project (HVP)</span></strong></div>
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