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	<title>Gene Expression &#187; Genomics</title>
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	<description>Genetics</description>
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		<title>Thoughts on the BGI IQ study</title>
		<link>http://www.gnxp.com/new/2011/08/26/thoughts-on-the-bgi-iq-study/</link>
		<comments>http://www.gnxp.com/new/2011/08/26/thoughts-on-the-bgi-iq-study/#comments</comments>
		<pubDate>Fri, 26 Aug 2011 22:35:14 +0000</pubDate>
		<dc:creator><![CDATA[ben g]]></dc:creator>
				<category><![CDATA[Uncategorized]]></category>
		<category><![CDATA[Genomics]]></category>

		<guid isPermaLink="false">http://www.gnxp.com/wp/?p=1394</guid>
		<description><![CDATA[I&#8217;ve been following the development of the BGI study on IQ pretty closely. I wanted to note two main caveats people should be aware of with regard to its methodology. First, as with any case-control study, volunteer bias will be an issue. If the cases are a certain class of very smart people, rather than [&#8230;]]]></description>
				<content:encoded><![CDATA[<p>I&#8217;ve been following the development of the <a href="http://infoproc.blogspot.com/2011/08/google-genetics-and-intelligence.html">BGI study on IQ</a> pretty closely.  I wanted to note two main caveats people should be aware of with regard to its methodology.</p>
<p>First, as with any case-control study, volunteer bias will be an issue.  If the cases are a certain class of very smart people, rather than a representative sample, then genes peculiar to that class of smart people will show up as hits. The BGI study is choosing people who are more math than verbal-oriented; will math-specific genes show up as general intelligence genes? Other confounds along these lines are possible&#8211; PhD genes, Ashkenazi genes, curiosity in new study genes, etc..</p>
<p>Second, because the study doesn&#8217;t completely control for family environments (possible only by comparing siblings to each other), gene-environment correlations and interactions can cause problems as well.  For example, suppose that high IQ parents also confer better environments for their children.  Then the IQ gene effects will get an extra &#8220;boost&#8221; from that environment.</p>
<p>None of this is to downgrade the awesomeness of the BGI study.  It should be viewed as an important step in resolving the nature vs nurture controversy.  Overeager journalists and bloggers are urged to wait a few more years before we finally resolve the IQ debate.</p>
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		<title>Your genes, your rights – FDA’s Jeffrey Shuren misleading testimony under oath</title>
		<link>http://www.gnxp.com/new/2011/03/09/your-genes-your-rights-fdas-jeffrey-shuren-not-a-fan/</link>
		<comments>http://www.gnxp.com/new/2011/03/09/your-genes-your-rights-fdas-jeffrey-shuren-not-a-fan/#comments</comments>
		<pubDate>Wed, 09 Mar 2011 20:06:41 +0000</pubDate>
		<dc:creator><![CDATA[Razib Khan]]></dc:creator>
				<category><![CDATA[Genetics]]></category>
		<category><![CDATA[Genomics]]></category>
		<category><![CDATA[Personal Genomics]]></category>

		<guid isPermaLink="false">http://www.gnxp.com/wp/?p=1189</guid>
		<description><![CDATA[Update: Welcome Instapundit readers! Please make sure to follow the very thorough discussion/debate over at Discover Blogs, where this has been cross-posted. End Update Over the past few days I&#8217;ve been very disturbed&#8230;and angry. The reason is that I&#8217;ve been reading Misha Angrist and Dr. Daniel MacArthur. First, watch this video: In the very near [&#8230;]]]></description>
				<content:encoded><![CDATA[<p><b>Update:</b> Welcome Instapundit readers! Please make sure to <a href="http://blogs.discovermagazine.com/gnxp/2011/03/your-genes-your-rights-fdas-jeffrey-shuren-not-a-fan/#comments">follow the very thorough discussion/debate</a> over at <i>Discover Blogs</i>, where this has been cross-posted.</p>
<p><b>End Update</b></p>
<p>Over the past few days I&#8217;ve been very disturbed&#8230;and angry. The reason is that I&#8217;ve been reading <a href="http://blogs.plos.org/genomeboy/2011/03/09/making-movies/">Misha Angrist</a> and <a href="http://www.wired.com/wiredscience/2011/03/did-the-fdas-jeffrey-shuren-mislead-a-congressional-hearing/">Dr. Daniel MacArthur</a>. First, watch this video:</p>
<p><iframe title="YouTube video player" width="480" height="390" src="http://www.youtube.com/embed/YI-m2Cucdoo" frameborder="0" allowfullscreen></iframe></p>
<p><strong>In the <em>very near</em> future you may be forced to go through a &#8220;professional&#8221; to get access to <em>your</em> genetic information. Professionals who will<em> be well paid </em>to &#8220;interpret&#8221; a complex morass of statistical data which they barely comprehend.</strong> Let&#8217;s be real here: <strong>someone who regularly reads this blog (or Dr. Daniel MacArthur or Misha&#8217;s blog) knows much more about genomics than 99% of medical doctors.</strong> And yet someone reading this blog does not have the guild certification in the eyes of the government to &#8220;appropriately&#8221; understand <strong><em>their own</em></strong> genetic information. Someone reading this blog will have to pay, either out of pocket, or through insurance, someone else for access to<em> </em><strong><em>their own information</em>. </strong> Let me repeat: the government and professional guilds which exist to <a href="http://www.wired.com/wiredscience/2011/02/american-medical-association-you-cant-look-at-your-genome-without-our-supervision/">defend the financial interests of their members</a> are proposing that they arbitrate what you can know about <strong><em>your genome</em>.</strong> A friend with a background in genomics emailed me today: &#8220;If they succeed in ramming this through, then you will not be able to access your own damn genome without a doctor standing over your shoulder.&#8221; That is my fear. Is it your fear? Do you care?</p>
<p>In the medium term this is all irrelevant. Sequencing will be so cheap that it will be <em><strong>impossible</strong></em> for the government and well-connected self-interested parties to prevent you from gaining access to <strong><em>your own</em></strong> genetic information. Until then, they will slow progress and the potential utility of this business. Additionally, this sector <strong><em>will flee the United States and go offshor</em>e, where regulatory regimes are not so strict.</strong> <a href="http://www.genomics.cn/en/index.php">BGI</a> should give glowing letters of thanks to Jeffrey Shuren and the A.M.A.! This is a power play where big organizations, the government, corporations, and professional guilds, are attempting to squelch the <strong>freedom of the consumer to further their own interests, and also strangle a nascent economic sector of start-ups as a side effect.</strong></p>
<p>You are so much more than your genes. So much more than that 3 billion base pairs. <strong>But they are a start, a beginning, <em>and how dare the government question your right to know the basic genetic building blocks of who you are</em>.</strong> This is the same government which attempted to construct a database of <a href="http://www.wired.com/dangerroom/2010/11/u-s-chases-foreign-leaders-dna-wikileaks-shows/">genetic information on foreign leaders</a>. We know very well then who they think should have access to this data. The Very Serious People with a great deal of Power. People with &#8220;clearance,&#8221; and &#8220;expertise,&#8221; have a right to know more about about <strong>your own DNA sequence than you do.</strong></p>
<p>What can you do?  What can we do? Can we affect change? I don&#8217;t know, I can&#8217;t predict the future. But this is what I&#8217;m going to do.</p>
<p><span id="more-1189"></span><br />
1) I am going to release my own 23andMe sequence into the public domain soon. I encourage <strong>everyone to download it.</strong> I would rather have someone off the street know my own genetic information than be made invisible by the government. <strong>That is my right.</strong> For now that right is not barred by law. I will exercise it.</p>
<p>2) Spread word of this video via social networking websites and twitter. The media needs to get the word out, but they only will if they know you care. Do you care? I hope you do. <strong>This is a power grab, this is <em>not</em> about safety or ethics. </strong> If it was, I assume that the &#8220;interpretative services&#8221; would be provided for free. I doubt they will be.</p>
<p>3) Contact your local representative in congress. I&#8217;ve never done this myself, but am going to draft a quick note. They need to be aware that people care, that this isn&#8217;t just a minor regulatory issue.</p>
<p><a href="http://www.wired.com/dangerroom/2010/11/u-s-chases-foreign-leaders-dna-wikileaks-shows/"></a></p>
<p>4) The online community needs to get organized. We&#8217;re not as powerful as a million doctors and a Leviathan government, <strong>but we have <em>right</em> on our side.</strong> They&#8217;re trying to take<strong><em> from us what is ours.</em></strong></p>
<p>5) Plan B&#8217;s. We need to prepare for the worst. Which nations have the least onerous regulatory regimes? Is genomic tourism going to be necessary? How about <a href="http://www.diygenomics.org/">DIYgenomics</a>? The cost of the technology to genotype and sequence is going to crash. I know that the Los Angeles DIYbio group has a cheap cast-off sequencer. For those who can&#8217;t afford to go abroad soon we&#8217;ll be able to get access to our information in our homes. Let&#8217;s prepare for that day.</p>
<p>This is a call to arms, a start. I&#8217;ve been complacent about this issue, focusing more on the fascinating aspects of ancestry inference which are enabled by personal genomics. No more. I&#8217;ll be doing a lot of reading today. <strong>If you have a blog, post the video.</strong> Raise awareness. Let&#8217;s make our voices heard. If they take away our rights because we&#8217;re silent, we have only ourselves to blame. If they take aware our rights despite our efforts, we&#8217;ll set up the infrastructure for the day when we can take back <strong><em>what is ours.</em></strong></p>
<p>P.S. Feel free to post info and ideas in the comments. <b>I just literally woke up to the urgency of this issue in the past 48 hours.</b></p>
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		<title>Diminishing returns of ancestry analysis (for me)</title>
		<link>http://www.gnxp.com/new/2011/02/02/diminishing-returns-of-ancestry-analysis-for-me/</link>
		<comments>http://www.gnxp.com/new/2011/02/02/diminishing-returns-of-ancestry-analysis-for-me/#comments</comments>
		<pubDate>Wed, 02 Feb 2011 08:32:00 +0000</pubDate>
		<dc:creator><![CDATA[Razib Khan]]></dc:creator>
				<category><![CDATA[Genetics]]></category>
		<category><![CDATA[Genomics]]></category>
		<category><![CDATA[Personal Genomics]]></category>
		<category><![CDATA[HAP]]></category>
		<category><![CDATA[Harappa Ancestry Project]]></category>

		<guid isPermaLink="false">http://www.gnxp.com/wp/?p=1077</guid>
		<description><![CDATA[Zack has finally started posting results from HAP. To the left you see the results generated at K = 5 from his merged data set with the first 10 HAP members. I am HRP002. Zack is HRP001. Paul G., who is an ethnic Assyrian, is HRP010. Some others have already &#8220;outed&#8221; themselves, so I could [&#8230;]]]></description>
				<content:encoded><![CDATA[<p><a href="http://www.gnxp.com/wp/wp-content/uploads/2011/02/aa_admixture_K_51.png"><img class="alignleft size-full wp-image-1084" title="aa_admixture_K_5" src="http://www.gnxp.com/wp/wp-content/uploads/2011/02/aa_admixture_K_51.png" alt="" width="300" height="300" /></a>Zack has finally started <a href="http://www.harappadna.org/2011/02/admixture-k2-5-hrp0001-to-hrp0010/#comments">posting</a> results from <a href="http://www.harappadna.org/">HAP</a>. To the left you see the results generated at K = 5 from his merged data set with the first 10 HAP members. I am HRP002. Zack is HRP001. Paul G., who is an ethnic Assyrian, is HRP010. Some others have already &#8220;outed&#8221; themselves, so I could proceed via process of elimination for the other bars. There isn&#8217;t anything very surprising here. Zack is 1/4 Egyptian, so he has a rather diverse ancestry. Jatts, who are from Northwest India, are known to have more affinity with populations to the west than those of us from the east or south of the subcontinent. With just that knowledge you can make some educated guesses as to what the &#8220;ancestral components&#8221; inferred from ADMIXTURE might correspond with in a concrete sense. After submitting to <a href="http://dodecad.blogspot.com/">Dodecad</a> and the <a href="http://bga101.blogspot.com/">BGA Project</a> I pretty much know what to expect in relation to me. I&#8217;m a rather generic South Asian, except, I have an obvious input of &#8220;eastern&#8221; ancestry.</p>
<p>This is what Dienekes also found. Aggregating various ancestral components together to be analogous to what Zack produced at K = 5, you get the bar plot below from his runs:</p>
<p><span id="more-1077"></span></p>
<p><a href="http://www.gnxp.com/wp/wp-content/uploads/2011/02/dod.png"><img class="alignnone size-full wp-image-1087" title="dod" src="http://www.gnxp.com/wp/wp-content/uploads/2011/02/dod.png" alt="" width="470" height="521" /></a></p>
<p>I assume that all ancestry analyses will find that I have a substantial minority of East Eurasian ancestry. I have a similar amount of ancestry which is obviously connected to West Eurasia. And the rest of my ancestry is going to fall into the catchall which is &#8220;South Asian,&#8221; which Reich et al. in <a href="http://www.nature.com/nature/journal/v461/n7263/abs/nature08365.html">Reconstructing Indian History</a> argued was in fact a compound between a West Eurasian-like population (&#8220;Ancestral North Indian,&#8221; ANI) and a South Eurasian population (&#8220;Ancestral South Indian,&#8221; ASI) which was more closely related to East Eurasians than West Eurasians, though distantly so at that (modern West Eurasians are interchangeable with ANI, but ASI do not exist in unadmixed form).</p>
<p>Finally, here&#8217;s an analysis of chromosome 1 and its affinities to various reference populations. I&#8217;ve labelled myself. No surprises:</p>
<p><a href="http://www.gnxp.com/wp/wp-content/uploads/2011/02/167704_492686352983_6993929.png"><img class="alignnone size-full wp-image-1088" title="167704_492686352983_6993929" src="http://www.gnxp.com/wp/wp-content/uploads/2011/02/167704_492686352983_6993929.png" alt="" width="517" height="683" /></a></p>
<p>I am HRP002 in HAP. DOD075 in Dodecad. IN8 in BGA. I am willing to submit to any of these new grassroots ancestry projects if they want me. But I doubt I&#8217;ll find anything too surprising now. They converge upon the same rough proportions (as they should).</p>
<p>I&#8217;m at the stage where I want to look more deeply into the details of how long ago the &#8220;eastern&#8221; admixture occurred. It seems to come down from <em>both</em> parents. If it was very recent there should be some linkage disequilibrium detectable because recombination should not have broken down the allelic associations distinctive to each ethnic group yet (this is noticeable in African Americans). But I am not so sure it is recent anymore, as I&#8217;d thought. I suspect a Tibeto-Burman and Munda element were absorbed by Bengali peasants in the course of demographic expansion in what became Bangladesh between 1000 and 1500 A.D., and that ancestry is well distributed across the population now.</p>
<p>But even though I won&#8217;t find anything out for myself, the reason HAP and projects like it are useful is that we need better coverage of the world&#8217;s variation. There are big coarse questions which we&#8217;ve tapped out, but there are still lots of gaps to fill. I&#8217;m willing to do my part in that (or, more precisely, at this point I&#8217;ve drafted my parents into the role, since they aren&#8217;t related and so represent two independent data points for Bengal).</p>
<p><strong>Addendum:</strong> I know for many people of European ancestry this sort of thing doesn&#8217;t tell them anything new. Not so for me. I always suspected East Asian admixture due to the phenotype of my extended family (and to some extent, me. I did not need to shave regularly until my 20s), but I was always curious as to its extent. Additionally, for the reasons of phenotype I had assumed my mother had very little of such ancestry while my father had a great deal. It turns out that in fact my mother may marginally be more &#8220;eastern&#8221; than my father.</p>
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