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Chapter !1 - Introduction to Genomics Code : KSI0010

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<p>Chromosomes. organlleles, and plasmids.&nbsp;</p>
 
<p>The most general classification of cells, according to both their structure and molecular biology, divides prokaryotes, simple cells without a nucleus, from eukaryotes, cells with nuclei.</p>
 
<p>In a eukaryotic cell, most of the DNA is sequestered in the nuclesus. The nucleus is the site of DNA replication and RNA synthesis in gene transcription.&nbsp;</p>
 
<p>Genes -As they come off the sequencing machines, genomes are long strings of As, Ts, Cs, Fs withous captions or sign posts.&nbsp;</p>
 
<p>Protein coding regions</p>
 
<p>Some regions are expressed as non- protein coding RNA</p>
 
<p>Other regions are targets of regulatory interactions</p>
 
<p>Dynamic components of genomes</p>
 
<p>-Transposable elements</p>
 
<p>-Retrotransposons</p>
 
<p>-Transposons</p>
 
<p>-LINES and SINES</p>
<p>&nbsp;</p>
<p><span class="marker"><span style="font-size:14px"><span style="font-family:comic sans ms,cursive"><span style="color:#0000CD"><strong>Genome sequencing projects</strong></span></span></span></span></p>
 
<p>Many genome projects target individual species. In addition, a major component of public DNA sequence data repositories comes from metagenomic data. These are sequences determined from environmental samples, without isolating indicidual organisms.&nbsp;</p>
 
<p>Genome projects and the development of our current information library</p>
 
<p>High-throughput DNA sequencing - single end reand &amp; paired end read</p>
 
<p>-High throughput sequencing</p>
 
<p>-De novo sequencing&nbsp;</p>
 
<p>-Resequencing</p>
 
<p>&nbsp;</p>
<p><span class="marker"><span style="font-size:14px"><span style="font-family:comic sans ms,cursive"><span style="color:#0000CD"><strong>Variations within and between populations</strong></span></span></span></span></p>
 
<p>-Cancer genome sequencing&nbsp;</p>
 
<p>Healthy cells do accumulate mutations at a modest rate. Cancer cells that have lost checks on acuracy of DNA replication accumulate mutations copiously.</p>
 
<p>To distinguish variations arising from the disease it&#39;s preferable to compare the seuquences from same individual</p>
 
<p>&nbsp;</p>
<p><span class="marker"><span style="font-size:14px"><span style="font-family:comic sans ms,cursive"><span style="color:#0000CD"><strong>Human genome sequencing</strong></span></span></span></span></p>
 
<p>SNPs( Single nucleotide polymorphisms)</p>
 
<p>Haplotpyes</p>
 
<p>&nbsp;</p>
<p><span class="marker"><span style="font-size:14px"><span style="font-family:comic sans ms,cursive"><span style="color:#0000CD"><strong>The human genome and medicine</strong></span></span></span></span></p>
 
<p>Prevention of disease</p>
 
<p>Detection and precise diagnosis</p>
 
<p>EX. Huntington&#39;s disease</p>
 
<p>Discovery and implementation of effective treatment</p>
 
<p>Health care delivery</p>
 
<p>&nbsp;</p>
 
<p>&nbsp;</p>
<p><span class="marker"><span style="font-size:14px"><span style="font-family:comic sans ms,cursive"><span style="color:#0000CD"><strong>The evolution and development of databases</strong></span></span></span></span></p>
 
<p>Sources of biological data include several high- throughput streams including</p>
 
<p>- Systematic genome sequencing&nbsp;</p>
 
<p>- Protein expression patterns</p>
 
<p>- Metabolic pathways</p>
 
<p>- Protein interaction Patterns and regulatory networks.&nbsp;</p>
 
<p>_ The scientific literature, inclding bibliographcial databases.&nbsp;</p>
 
<p>Datavank evo-devo</p>
 
<p>Genome browsers.&nbsp;</p>
 
<p>&nbsp;</p>
<p><span class="marker"><span style="font-size:14px"><span style="font-family:comic sans ms,cursive"><span style="color:#0000CD"><strong>Protein evolution : Divergence of sequences and structures within and between species</strong></span></span></span></span></p>
 
<p>Different globins diverged from a common ancestor</p>
 
<p>&nbsp;</p>
<p><span class="marker"><span style="font-size:14px"><span style="font-family:comic sans ms,cursive"><span style="color:#0000CD"><strong>Ethical, lega and social issues</strong></span></span></span></span></p>
<p>Databases containing human DNA sequence information.&nbsp;</p> <p>-DNA sequence databases, law enforcement and the courts (Samples)</p> <p>Ethical considerations for compiling DNA databases.&nbsp;</p> <p>______________________________________________________________________________________________________KSI</p>
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