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	<title>Comments on: Exomes and Rare Disorders: Baby Steps to Personalized Medicine</title>
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	<link>http://www.dna-dude.com/2010/01/exomes-rare-disorders-personal-medicine/</link>
	<description>All about your stringy bits.</description>
	<lastBuildDate>Mon, 06 Jun 2011 18:06:57 +0000</lastBuildDate>
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		<title>By: Staples Blog &#187; &#187; A Quick Dip in the Gene Pool</title>
		<link>http://www.dna-dude.com/2010/01/exomes-rare-disorders-personal-medicine/comment-page-1/#comment-44</link>
		<dc:creator>Staples Blog &#187; &#187; A Quick Dip in the Gene Pool</dc:creator>
		<pubDate>Mon, 07 Mar 2011 03:15:09 +0000</pubDate>
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		<description>[...] had any issues ourselves, it probably isn&#8217;t the problem.) This particular process is called exome sequencing. It&#8217;s still fairly new and isn&#8217;t being offered clinically yet (meaning your doctor [...]</description>
		<content:encoded><![CDATA[<p>[...] had any issues ourselves, it probably isn&#8217;t the problem.) This particular process is called exome sequencing. It&#8217;s still fairly new and isn&#8217;t being offered clinically yet (meaning your doctor [...]</p>
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		<title>By: Dr. Rick</title>
		<link>http://www.dna-dude.com/2010/01/exomes-rare-disorders-personal-medicine/comment-page-1/#comment-24</link>
		<dc:creator>Dr. Rick</dc:creator>
		<pubDate>Wed, 27 Jan 2010 08:41:10 +0000</pubDate>
		<guid isPermaLink="false">http://www.dna-dude.com/?p=221#comment-24</guid>
		<description>Hi Keith,

Thanks for the useful comments, especially wrt to the clear definition of resequencing.</description>
		<content:encoded><![CDATA[<p>Hi Keith,</p>
<p>Thanks for the useful comments, especially wrt to the clear definition of resequencing.</p>
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		<title>By: Keith Robison</title>
		<link>http://www.dna-dude.com/2010/01/exomes-rare-disorders-personal-medicine/comment-page-1/#comment-23</link>
		<dc:creator>Keith Robison</dc:creator>
		<pubDate>Tue, 26 Jan 2010 18:30:21 +0000</pubDate>
		<guid isPermaLink="false">http://www.dna-dude.com/?p=221#comment-23</guid>
		<description>Three comments.

First, on the pedantic side, is that &quot;resequencing&quot; is not synonymous with second generation sequencing.  Resequencing is sequencing a target genome for which you already have one or more reference sequences.  Contrast this with &quot;de novo sequencing&quot;, which generates such a reference sequence when none is available.

Second, a key bit of information is copy number, and while it is suggestive that at least some exome sequencing approaches preserve this, they may not do so fully (i.e. introduce some distortion).

Third, it may soon be a moot point.  Exome sequencing adds additional steps, whose cost is worth it if you save money on everything else.  The cost of whole genome sequencing is coming down very rapidly, whereas the cost of various exome selection methods is not on such a trend.  If the added cost of selection outweighs downstream efficiencies, then targeted sequencing won&#039;t be competitive.  For whole exome sequencing -- barring some major improvements in the cost -- that point of lost economy is probably less than 2 years away.</description>
		<content:encoded><![CDATA[<p>Three comments.</p>
<p>First, on the pedantic side, is that &#8220;resequencing&#8221; is not synonymous with second generation sequencing.  Resequencing is sequencing a target genome for which you already have one or more reference sequences.  Contrast this with &#8220;de novo sequencing&#8221;, which generates such a reference sequence when none is available.</p>
<p>Second, a key bit of information is copy number, and while it is suggestive that at least some exome sequencing approaches preserve this, they may not do so fully (i.e. introduce some distortion).</p>
<p>Third, it may soon be a moot point.  Exome sequencing adds additional steps, whose cost is worth it if you save money on everything else.  The cost of whole genome sequencing is coming down very rapidly, whereas the cost of various exome selection methods is not on such a trend.  If the added cost of selection outweighs downstream efficiencies, then targeted sequencing won&#8217;t be competitive.  For whole exome sequencing &#8212; barring some major improvements in the cost &#8212; that point of lost economy is probably less than 2 years away.</p>
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		<title>By: Matthew</title>
		<link>http://www.dna-dude.com/2010/01/exomes-rare-disorders-personal-medicine/comment-page-1/#comment-22</link>
		<dc:creator>Matthew</dc:creator>
		<pubDate>Tue, 26 Jan 2010 18:24:14 +0000</pubDate>
		<guid isPermaLink="false">http://www.dna-dude.com/?p=221#comment-22</guid>
		<description>Sample preparation costs could easily outweigh cost savings from exomic sequencing vs. whole genome sequencing if continued order-of-magnitude sequencing efficiencies are found.  Because we don&#039;t know what the non-exomic DNA always means does not mean that there is no information to be gained from the rest of the genome; indeed many of the important common variants so far have not been exomic.</description>
		<content:encoded><![CDATA[<p>Sample preparation costs could easily outweigh cost savings from exomic sequencing vs. whole genome sequencing if continued order-of-magnitude sequencing efficiencies are found.  Because we don&#8217;t know what the non-exomic DNA always means does not mean that there is no information to be gained from the rest of the genome; indeed many of the important common variants so far have not been exomic.</p>
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