10,000 Human Genomes, Deeply Examined by the Craig Venter Institute
J. Craig Venter his next big achievent
I have considered it my job to report some of the scientific news I find interesting. It is currently far from popular on Steemit, but I just not happen to be in to make-up or globetrotting. I have included some background information.. Have fun!
The first Human Genome Project
A genome stands for all genetic information coded in DNA from an organism, in this case Human. In the 90s there was a real battle between two parties to publish the first Human Genome. On one site there was J.Craig Venter, a researcher who was working for the Pharmaceutical industry to sequence and assemble the first human genome, and on the other side a large consortium of universities from the US and other parts of the world, The Human Genome Project, leaded by Francis Collins. When both parties where nearing the finishing line they made a deal, and published their sequence together. This was off-course huge news, and the J.Craig Venter as well as Francis Collins were invited to give a speech in the White House.
The 1000 genome project
So this first genome got geneticists busy for several years. A huge number of new genes and their function were discovered. The problem however, was that all information available was more or less based on the DNA from a few persons (including the DNA of Venter himself). Looking at your neighbor you can imagine that he has some DNA that is quite different from yours, so you can probably also imagine that researchers were interested in the existing variance in the human genome.
In 2006-7 there were a few new sequencing techniques introduced which made it 1000 times cheaper to do DNA sequencing. This led to the birth of the 1,000 genome project, a multidisciplinary team of researchers from institutes all over the world that were aiming to sequence 1000 genomes and investigate the variance. Since the completion of the 1,000 Genome Project in 2012 advances in human population genetics and comparative genomics have made it possible to gain increasing insight into the nature of genetic diversity.
The 10,000 genome project
These 1,000 genomes was off-course not enough, since it did not cover a lot of minority groups living in the world. So for this reason the 10,000 genome project was launched by Venter his institute. 10,000 genomes were needed to capture as much variation as possible.
The preliminary paper is published over here: http://biorxiv.org/content/early/2016/07/01/061663
If you are interested please have a look at the figures included. There is some nice data about the DNA variance around exons and gene borders.
The highlights from the Abstract from the paper include:
Approximately 84 percent of an individual genome can be sequenced confidently. This contains 92.5 percent of known disease-causing variations.
Each newly sequenced genome contains an average of 8,579 previously unknown variations.
Each genome contains about 700,000 DNA “letters” that aren’t found in a standard reference genome. This points out that the reference is still not complete.
A total of 150 million human variants were discovered
More importantly a lot of knowledge is obtained on where variance in the human genome is actually tolerated.
100,000 genomes?
The project has already been launched..
http://www.genomicsengland.co.uk/the-100000-genomes-project/
If you want your genome to be sequenced you can always call Venter!!