Sanger institute papers in Nature
Authors from the Wellcome Trust Sanger Institute have contributed to five publications which appear in this week’s edition of the prestigious journal Nature. The journal will publish a special ‘Genome Edition’ in print on Thursday 1 April. This year marks 10 years since the announcement of the draft human genome sequence in June 2000.
The five papers highlight the scale and ambition of the research to which Institute researchers contribute nearly ten years after that seminal moment in genetic science: they are evidence of the way in which the freely available sequence produced by the Human Genome Project has transformed biological research.
“It is great to see this contribution from the Sanger Institute, nearly a decade after we published the draft human genome. This issue of Nature is a tour de force for genome scientists around the world and it is a testament to the vision of the research teams here at the Institute, that we are able to contribute in this way.”
Professor Mike Stratton Deputy Director of the Wellcome Trust Sanger Institute
Together, the publications highlight new possibilities in genetic science – unthinkable just a few years ago.
The papers include the publication of the complete zebra finch genome, a new triumph for the Ensembl project which launched in 2000 to coincide with the completion of the Human Genome Project. Ensembl is a genome browser – the definitive source of genomic interpretation. The Ensembl team identified and described the genes in the zebra finch genome sequence.
(From alpaca to zebra finch)
Also included is a study looking into the role of copy number variation (CNVs) in the genetics of common diseases including diabetes, heart disease and bipolar disorder. The study uses new technologies to analyse data from over 20,000 people and concludes that structural variation – a phenomenon first seen in the genome just five years ago – seems to play a less central role in the heritability of common diseases than had been thought.
(CNVs and common disease)
In another paper, published online in 2009 and in print in Nature’s ‘Genome Edition’, an international team looks again at structural variation, offering the finest map of structural changes in the human genome and a resource they have developed for researchers worldwide to look at the role of these changes in human disease. They also identify 75 ‘jumping genes’ – regions of our genome that can be found in more than one location in some individuals.
(Jumping genes, gene loss and genome dark matter)
In a further paper, published online earlier this month and set to appear in the print version of Nature‘s ‘Genome Edition’, researchers use novel technology in RNA sequencing provide the most detailed picture of how gene activity in blood cells differs between individuals and to look at the variations in DNA that shape this.
(Exploring genetic effects in cells)
A final paper contributed to by the Sanger Institute looks at the consequences of disrupting each of the human genes. The MitoCheck team prevented each of the 21,000 human genes form working and watched the consequences using time-lapse video. The project is built on an IT and software infrastructure to allow such global research to be analysed. Like the Human Genome Project researchers, the MitoCheck team has made its data freely available.
(Movies for the human genome)
Since the Sanger Institute made the largest single contribution to the gold standard human genome sequence, it has turned its attention to rooting out the genetic basis of human health and disease. Today’s publications highlight how genome sequence has become a scaffold to ask ever more probing questions and test increasingly ambitious hypotheses.
