1000$ Genome

20 years ago I started to work in the field of complex genetics by analysing the genetic variability of human serotonin receptor genes in the context of schizophrenia and bipolar affective disorders. 
I was one of the first scientists in Germany to establish SSCP for mutation-detection, a method nobody is using anymore. 
Sequencing was done by the Sanger-method using radioactivley-labelled dideoxynucleotides and autoradiography. In the late 1990 we were really lucky to have read lengths of 200-300 base pairs. 
For more than two decades sequencing was a tedious and expensive experiment ($/base pair). 
Below you can see an example of a stretch of DNA-sequence showing a point mutation in the serotonin 1D beta receptor gene; published in 1994.
Nöthen, Erdmann, Shimron-Abarbanell, Propping. Identification of genetic variation in the human serotonin 1D beta receptor gene.
BBRC (1994) 205 (2): 1194-200.

 
In 2001 the first human genome was published - the costs were around 100.000.000$. 

Yesterday, Illumina announced the new HiSeq X Ten Sequencing System allowing a price of 1.000$ per genome! To better illustrate this rapid decline in costs I found the following figure in the Illumina datasheet for the HiSeq X Ten.
Illumina sequencing technology outpaces Moore´s law for the price of whole human genome sequencing
It is fascinating that it took only 13 years to bring down the price of a human genome from 100,000,000 $ to 1000$. 
 
This low price will change the field of genomics/genetics and will allow experiments that were not thinkable a few years ago. It is absolutely thrilling that our research at the IIEG will benefit from this milestone in methodological development. Even though, it will we be difficult for smaller institutions (like ours) to keep the pace with the international research centers.

So it is quite clear that we will not directly benefit from this price, because you need at least 10.000.000$ to buy 10 of these machines (you cannot buy only one!). With such an equipment you can than sequence 18.000 genomes per year! This is why until today only 4 research centers worldwide have ordered the HiSeq X Ten Sequencing System. 

Hopefully, we will have an German initiative soon to buy such machines so we can actually start doing large-scale sequencing in Germany as will be done in other countries too.
JE




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