Thirty scientific papers describe the human genome map
It has taken more than 30 open access scientific papers published simultaneously on September 6 in the genetics and biology journals with the highest impact - Nature, Genome Research and Genome Biology - to compile the results obtained so far from the ENCODE (Encyclopedia of DNA Elements) project.
442 scientists from 32 laboratories around the world have participated in the ENCODE International Consortium. They include 20 researchers at the Centre for Genomic Regulation, a UPF affiliated centre of which the University is a shareholder, who were coordinated by Professor Roderic Guigó, Head of the Bioinformatics and Genomics Programme of the CRG and Professor of Molecular Biology in the Department of Experimental Sciences (CEXS) at UPF.
One of the main conclusions which the international team of researchers comprising the consortium reached is that most of what had until recently been considered as " junk DNA" within the human genome is actually very useful and important genetic material.
While the Human Genome Project (HGP) revolutionized biomedical research, ENCODE, led by the National Genome Research Institute (NHGRI) in the United States and the EMBL European Bioinformatics Institute (EMBL-EBI) in the UK, provides a detailed map of the workings of a part of the genome that involves four million gene "switches" and provides a better understanding of the data obtained from the PGH, opening up new avenues for biomedical research.
These results demonstrate that genetic material works as a kind of interconnected network, rather than as a linear structure, which is why it is so important to find out where the genes studied are as well as establishing the sequences that control them.
The CRG's contribution to ENCODE
Roderic Guigó, coordinator of the Bioinformatics and Genomics Programme at the CRG and a professor at the CEXS-UPF, led the ENCODE RNA analysis group made up of twenty researchers linked to the CRG. The group participated in the analysis of the genome's transcriptional activity.
Before ENCODE, it was assumed that the genome's transcriptional activity took place in order to synthesize molecules of messenger RNA to produce proteins. Over the last decade, new technologies enabling the genome's entire transcriptional activity to be monitored with unprecedented resolution have been developed.
Using this technology, the ENCODE researchers discovered major transcriptional activity in the human genome that is not involved with producing proteins. "RNA molecules are very abundant and even more diverse in terms of their sequence, structure and function than we imagined. RNA biology will become increasingly crucial for basic research and for technical applications in biology and medicine in particular," explained Roderic Guigó.
One of the main challenges for the CRG has been how to deal with the large amount of data generated in this project. "The CRG was the base for storing data on RNA, and this often put the capacity of the centre's infrastructure to the test," said Julien Lagarde, who was in charge of the computing for this project at the CRG.
The CRG researchers are co-authors of two manuscripts published in Nature and the lead authors of one of them, of four articles published in Genome Research and the lead authors of three, and of two more published in Genome Biology.
Teamwork that establishes a new way of producing science
Participating in the ENCODE project was both a challenge and a reward for the researchers at the CRG. "The ENCODE project has set new standards in terms of cooperation between scientists," adds Rodrigo Guigó. "We have been working very closely with scientists all over the world. Our working group met weekly by teleconference, and included researchers from California, the East Coast of the United States, the United Kingdom, Switzerland, Singapore and Japan. The meeting was at 6 am for the researchers in California, but at midnight for the Japanese."
From Spain, two researchers from CNIO took part, and it was supported by the Spanish Institute of Bioinformatics. In addition, the cover of Genome Research was the result of work by researchers at the CRG and was inspired by the work of Catalan artist Joan Miró.
The ENCODE project is only the first step in the long and complex task of deciphering the meaning of the genome sequence. "This is in fact the main task for twenty-first century biology.
"As researchers, we feel deeply privileged to be able to contribute to this project," said Roderic Guigó. "Our participation in ENCODE is partly the result of direct policies to promote scientific research," he continued. The opportunity for researchers from this country to be involved in scientific projects of global significance like this one depends on a firm and decisive commitment to support scientific research," added Guigó.
As European coordinator of the project, Roderic Guigó took part in a press conference to announce the results of ENCODE at the Science Museum in London on September 5.