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Diego Herrera Cancer and Society
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[object Object],[object Object],[object Object],[object Object],Detects inversions Approximately 10% of SVs >2kb in size ,[object Object],Breakpoint identification of copy-number variants (CNVs) Typically requires 75- to 100-nt to capture most deletions Read depth Determines the frequency of ‘reads’ in a DNA segment, which reflects its copy number Local Reassembly Requires the use of DNA microarrays and comparative genome hybridization. The intensities of hybridization are relative to the reference sample copy number
 
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The graph on the left shows an inverse relationship of two factors: fiscal expense of sequencing and the number of genomes created.  As the sequencing cost per base has decreased, the number of completed genomes have increased.  The table on the right shows the specialized genomes that implemented recently developed high-throughput DNA sequencing techniques. This technology was not available to researchers of the Human Genome Project.
Step 1: Formation of DNA Nanoballs (DNBs)  Each DNB contains hundreds of copies of the 70 bases sought to be read in each fragment Diameter of each spot is 300 nanometers. The space between each spot is 700 nanometers. There are 2.8 billion spots in the area of the chip: 25 millimeters wide and 75 millimeters long Step 2: Plating Fill spots with sticky DNBs. Each nanoball array chip contains 180 billion bases of genomic DNA for imaging  Step 3: Imaging  Detection of red, blue, green and yellow fluorescence.  High accuracy makes it possible to read seven 5-base segments from two ends. Total of 70 bases read in each fragment
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[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Scene from the film,  Gattaca
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Fictional viruses engineered to help an investigator solve a case by enhancing his emotion of empathy
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Clinical Assessment In Incorporating a Personal Genome

  • 1. Diego Herrera Cancer and Society
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  • 13. The graph on the left shows an inverse relationship of two factors: fiscal expense of sequencing and the number of genomes created. As the sequencing cost per base has decreased, the number of completed genomes have increased. The table on the right shows the specialized genomes that implemented recently developed high-throughput DNA sequencing techniques. This technology was not available to researchers of the Human Genome Project.
  • 14. Step 1: Formation of DNA Nanoballs (DNBs) Each DNB contains hundreds of copies of the 70 bases sought to be read in each fragment Diameter of each spot is 300 nanometers. The space between each spot is 700 nanometers. There are 2.8 billion spots in the area of the chip: 25 millimeters wide and 75 millimeters long Step 2: Plating Fill spots with sticky DNBs. Each nanoball array chip contains 180 billion bases of genomic DNA for imaging Step 3: Imaging Detection of red, blue, green and yellow fluorescence. High accuracy makes it possible to read seven 5-base segments from two ends. Total of 70 bases read in each fragment
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