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	<title>Ancient DNA exercise answers - Revision history</title>
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	<updated>2026-05-04T08:15:42Z</updated>
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		<id>https://teaching.healthtech.dtu.dk/22126/index.php?title=Ancient_DNA_exercise_answers&amp;diff=33&amp;oldid=prev</id>
		<title>WikiSysop: Created page with &quot;&#039;&#039;&#039;Q1&#039;&#039;&#039;  the read length is about 100bp but the actual insert size is unknown.  &#039;&#039;&#039;Q2&#039;&#039;&#039;  very low, less than 1%   &#039;&#039;&#039;Q3&#039;&#039;&#039;  About 40bp.  &#039;&#039;&#039;Q4&#039;&#039;&#039;  About 25%.  &#039;&#039;&#039;Q5&#039;&#039;&#039;   As and Gs  &#039;&#039;&#039;Q6&#039;&#039;&#039;  The sample indeed looks ancient. If we did not see DNA fragmentation or damage it could be indicative of present-day human contamination.  &#039;&#039;&#039;Q7&#039;&#039;&#039;  &lt;pre&gt; wc -l world.fam wc -l world.bim &lt;/pre&gt; 297 samples and 587772 SNPs.  &#039;&#039;&#039;Q8&#039;&#039;&#039;  &lt;pre&gt; cut -f2 world.sampleInfo.txt | tail -n +2...&quot;</title>
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		<updated>2024-03-19T15:36:27Z</updated>

		<summary type="html">&lt;p&gt;Created page with &amp;quot;&amp;#039;&amp;#039;&amp;#039;Q1&amp;#039;&amp;#039;&amp;#039;  the read length is about 100bp but the actual insert size is unknown.  &amp;#039;&amp;#039;&amp;#039;Q2&amp;#039;&amp;#039;&amp;#039;  very low, less than 1%   &amp;#039;&amp;#039;&amp;#039;Q3&amp;#039;&amp;#039;&amp;#039;  About 40bp.  &amp;#039;&amp;#039;&amp;#039;Q4&amp;#039;&amp;#039;&amp;#039;  About 25%.  &amp;#039;&amp;#039;&amp;#039;Q5&amp;#039;&amp;#039;&amp;#039;   As and Gs  &amp;#039;&amp;#039;&amp;#039;Q6&amp;#039;&amp;#039;&amp;#039;  The sample indeed looks ancient. If we did not see DNA fragmentation or damage it could be indicative of present-day human contamination.  &amp;#039;&amp;#039;&amp;#039;Q7&amp;#039;&amp;#039;&amp;#039;  &amp;lt;pre&amp;gt; wc -l world.fam wc -l world.bim &amp;lt;/pre&amp;gt; 297 samples and 587772 SNPs.  &amp;#039;&amp;#039;&amp;#039;Q8&amp;#039;&amp;#039;&amp;#039;  &amp;lt;pre&amp;gt; cut -f2 world.sampleInfo.txt | tail -n +2...&amp;quot;&lt;/p&gt;
&lt;p&gt;&lt;b&gt;New page&lt;/b&gt;&lt;/p&gt;&lt;div&gt;&amp;#039;&amp;#039;&amp;#039;Q1&amp;#039;&amp;#039;&amp;#039;&lt;br /&gt;
&lt;br /&gt;
the read length is about 100bp but the actual insert size is unknown.&lt;br /&gt;
&lt;br /&gt;
&amp;#039;&amp;#039;&amp;#039;Q2&amp;#039;&amp;#039;&amp;#039;&lt;br /&gt;
&lt;br /&gt;
very low, less than 1%&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&amp;#039;&amp;#039;&amp;#039;Q3&amp;#039;&amp;#039;&amp;#039;&lt;br /&gt;
&lt;br /&gt;
About 40bp.&lt;br /&gt;
&lt;br /&gt;
&amp;#039;&amp;#039;&amp;#039;Q4&amp;#039;&amp;#039;&amp;#039;&lt;br /&gt;
&lt;br /&gt;
About 25%.&lt;br /&gt;
&lt;br /&gt;
&amp;#039;&amp;#039;&amp;#039;Q5&amp;#039;&amp;#039;&amp;#039;&lt;br /&gt;
&lt;br /&gt;
 As and Gs&lt;br /&gt;
&lt;br /&gt;
&amp;#039;&amp;#039;&amp;#039;Q6&amp;#039;&amp;#039;&amp;#039;&lt;br /&gt;
&lt;br /&gt;
The sample indeed looks ancient. If we did not see DNA fragmentation or damage it could be indicative of present-day human contamination.&lt;br /&gt;
&lt;br /&gt;
&amp;#039;&amp;#039;&amp;#039;Q7&amp;#039;&amp;#039;&amp;#039;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;pre&amp;gt;&lt;br /&gt;
wc -l world.fam&lt;br /&gt;
wc -l world.bim&lt;br /&gt;
&amp;lt;/pre&amp;gt;&lt;br /&gt;
297 samples and 587772 SNPs.&lt;br /&gt;
&lt;br /&gt;
&amp;#039;&amp;#039;&amp;#039;Q8&amp;#039;&amp;#039;&amp;#039;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;pre&amp;gt;&lt;br /&gt;
cut -f2 world.sampleInfo.txt | tail -n +2 | sort | uniq -c|sort -rn&lt;br /&gt;
     70 Yoruba&lt;br /&gt;
     33 Han&lt;br /&gt;
     29 Basque&lt;br /&gt;
     27 Sardinian&lt;br /&gt;
     25 French&lt;br /&gt;
     20 Hungarian&lt;br /&gt;
     20 Greek&lt;br /&gt;
     19 Bedouin2&lt;br /&gt;
     17 Adygei&lt;br /&gt;
     10 Lithuanian&lt;br /&gt;
     10 Armenian&lt;br /&gt;
      8 Tuscan&lt;br /&gt;
      1 UstIshim&lt;br /&gt;
      1 Stuttgart&lt;br /&gt;
      1 Samara&lt;br /&gt;
      1 NE1&lt;br /&gt;
      1 MA1&lt;br /&gt;
      1 Loschbour&lt;br /&gt;
      1 Karelia&lt;br /&gt;
      1 Iceman&lt;br /&gt;
      1 Brana&lt;br /&gt;
&amp;lt;/pre&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;#039;&amp;#039;&amp;#039;Q9:&amp;#039;&amp;#039;&amp;#039;&lt;br /&gt;
&lt;br /&gt;
You should be getting the same:&lt;br /&gt;
&amp;lt;pre&amp;gt;&lt;br /&gt;
plink --bfile world --missing --out world&lt;br /&gt;
587772 variants loaded from .bim file.&lt;br /&gt;
297 people (0 males, 0 females, 297 ambiguous) loaded from .fam.&lt;br /&gt;
&amp;lt;/pre&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&amp;#039;&amp;#039;&amp;#039;Q10:&amp;#039;&amp;#039;&amp;#039;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;pre&amp;gt;&lt;br /&gt;
 cat world.imiss  |grep -i ice&lt;br /&gt;
     Iceman          Iceman          Y    11873   587772   0.0202&lt;br /&gt;
&amp;lt;/pre&amp;gt;&lt;br /&gt;
&lt;br /&gt;
so about 2%.&lt;br /&gt;
&lt;br /&gt;
&amp;#039;&amp;#039;&amp;#039;Q11&amp;#039;&amp;#039;&amp;#039;&lt;br /&gt;
&lt;br /&gt;
&amp;lt;pre&amp;gt;&lt;br /&gt;
zcat RISE507.pileup.gz |wc -l &lt;br /&gt;
102014&lt;br /&gt;
&amp;lt;/pre&amp;gt;&lt;br /&gt;
&lt;br /&gt;
&amp;#039;&amp;#039;&amp;#039;Q12&amp;#039;&amp;#039;&amp;#039; &lt;br /&gt;
&lt;br /&gt;
Using:&lt;br /&gt;
&amp;lt;pre&amp;gt;&lt;br /&gt;
 plink --bfile world --bmerge RISE507 --out RISE507.merge&lt;br /&gt;
&amp;lt;/pre&amp;gt;&lt;br /&gt;
&lt;br /&gt;
should result in:&lt;br /&gt;
&amp;lt;pre&amp;gt;&lt;br /&gt;
Error: 253 variants with 3+ alleles present.&lt;br /&gt;
&amp;lt;/pre&amp;gt;&lt;br /&gt;
&lt;br /&gt;
This normally is due to tri-allelic sites. Normally they should be very few. However, in our case, there are a lot. This is likely due to damage that creates spurious variations.&lt;br /&gt;
&lt;br /&gt;
&amp;#039;&amp;#039;&amp;#039;Q13:&amp;#039;&amp;#039;&amp;#039; &lt;br /&gt;
&lt;br /&gt;
The Yoruba.&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&amp;#039;&amp;#039;&amp;#039;Q14:&amp;#039;&amp;#039;&amp;#039;&lt;br /&gt;
&lt;br /&gt;
The Han.&lt;br /&gt;
&lt;br /&gt;
&amp;#039;&amp;#039;&amp;#039;Q15:&amp;#039;&amp;#039;&amp;#039;&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
The [https://en.wikipedia.org/wiki/Adyghe_people Adygei]&lt;br /&gt;
&lt;br /&gt;
&amp;#039;&amp;#039;&amp;#039;Q16&amp;#039;&amp;#039;&amp;#039;&lt;br /&gt;
&lt;br /&gt;
The Sardinians&lt;br /&gt;
&lt;br /&gt;
&amp;#039;&amp;#039;&amp;#039;Q17&amp;#039;&amp;#039;&amp;#039;&lt;br /&gt;
&lt;br /&gt;
the [https://en.wikipedia.org/wiki/Ust%27-Ishim_man Ust-Ishim] and the [https://en.wikipedia.org/wiki/Mal%27ta%E2%80%93Buret%27_culture Mal&amp;#039;ta–Buret&amp;#039; boy] (MA1).&lt;br /&gt;
&lt;br /&gt;
There are many reasons that can explain this:&lt;br /&gt;
# the ancient individuals completely fall outside the range of genomic diversity of modern humans i.e. they were isolated populations that potentially died off.&lt;br /&gt;
# these were individuals with mixed ancestry&lt;br /&gt;
# they contain numerous errors due to damage&lt;br /&gt;
&lt;br /&gt;
&lt;br /&gt;
&amp;#039;&amp;#039;&amp;#039;Q18:&amp;#039;&amp;#039;&amp;#039;&lt;br /&gt;
&lt;br /&gt;
The RISE507 sample from Afanasievo culture.&lt;br /&gt;
&lt;br /&gt;
&amp;#039;&amp;#039;&amp;#039;Q19:&amp;#039;&amp;#039;&amp;#039;&lt;br /&gt;
&lt;br /&gt;
Our individual is now a bit outside of the Hungarian / French cluster.&lt;br /&gt;
&lt;br /&gt;
&amp;#039;&amp;#039;&amp;#039;Q20&amp;#039;&amp;#039;&amp;#039;&lt;br /&gt;
&lt;br /&gt;
[https://www.nature.com/articles/nature14507 Allentoft et al. 2015] actually found that the individuals from the [https://en.wikipedia.org/wiki/Afanasievo_culture Afanasievo] were genetically indistinguishable from the [https://en.wikipedia.org/wiki/Yamnaya_culture Yamnhaya culture] which is a culture closely related to [https://en.wikipedia.org/wiki/Western_Steppe_Herders Western Steppe Herders] which is one of the major genetic contributor to present-day Europeans.&lt;/div&gt;</summary>
		<author><name>WikiSysop</name></author>
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