Experts on 10th anniversary of the first draft human genome

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Oxford Centre for Diabetes, Endocrinology and Metabolism and Wellcome Trust Centre for Human Genetics

‘The first human genome was a hugely influential and transformative step. It gave us a systematic way of looking at genes and heralded an era when genetics became “big science” like astronomy and physics.

‘Close to 1000 sites of genetic variation have now been associated with common diseases, such as diabetes, heart disease and cancer. That is way more than we might have expected and it has given us insights into many diseases.

‘At the same time, the results have also been surprising in that the variants we’ve identified don’t explain more than a minority of the genetic basis for disease, and it has proved harder than we imagined to translate the results of these studies rapidly into new biological insights.

‘New studies that compare whole genome sequences should be able to pick up common and rare variants in a way that has not been possible to date. There is optimism that this will nail the missing heritability. The first efforts to do this on a large scale are now beginning or being planned.’

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Director of the MRC Functional Genomics Unit and Head of the Department of Physiology, Anatomy and Genetics

‘The impact of the human genome project is only just beginning. We now have more genes which we know are associated with complex diseases such as diabetes and autism. Our ability to sequence cancer genomes directly from tumours is providing an unparalleled opportunity to understand how these tumours arise. Knowledge of when and where candidate genes are expressed is identifying pathways which had not been implicated in disease before.

‘This is vital information for the development of effective therapies. The next decade promises to be as exciting for the patient as the scientist.’ 

Department of Chemistry and founder of Oxford Nanopore Technologies

‘The human genome draft was a massive leap forward for biology and medicine, but expensive and time consuming.

‘Since the draft, the cost of a human genome sequence has been reduced, amazingly, by more than 100,000-fold, from around $3 billion to $10,000 thanks to second-generation sequencing technology. Now a third generation of sequencers, based on single-molecule approaches, is under intense development.

‘What do I predict for 2015? Still lower costs, but importantly the time required for a complete sequence will be less than one hour. The consequences for humankind will be literally incredible.

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MRC Functional Genomics Unit and Department of Physiology, Anatomy and Genetics

‘Sequencing the human genome was truly humbling. Our previous preconceptions were that the human genome was exceptional in containing many tens of thousands of genes, and that most biologically important sequence makes proteins. How wrong we were.

‘The human genome is now known to contain barely twenty thousand genes, little more than for a nematode worm. Furthermore, human DNA that is read out to become protein is only a small fraction of all DNA that is biologically important.

‘Illuminating the functions of the rest of the important “dark matter” in the human genome now occupies the working lives of genome biologists worldwide.’

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Nuffield Department of Clinical Laboratory Sciences

‘The human genome project not only gave us a mass of information about the genome but also provided all the analytical tools to enable us to use the knowledge.

‘We’re interested in developing new effective ways of delivering gene therapy to patients, and it has revolutionised the knowledge base available to support gene therapy in the future.

‘The potential for exploiting that information is huge, and we haven’t even scratched the surface yet.' 

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Department of Clinical Neurology and Wellcome Trust Centre for Human Genetics

‘The sequencing of the human genome has provided a vital tool for understanding the interactions between genes and the environment, how "nature" and "nurture" are bound up together, in many human diseases such as multiple sclerosis.

‘Epigenetics – an emerging field that moves beyond the sequence of the DNA code alone to consider other changes in the chemical and physical structure of our genes – is turning out to be the most important of these gene–environment interactions.

'We can expect many new insights from epigenetics in the coming years, in areas from cancer to multiple sclerosis, continuing to build on the knowledge we have gained from the human genomics studies of the last ten years.’

Wellcome Trust Centre for Human Genetics

'The human genome project was a remarkable scientific achievement, an international collaborative research effort which has revolutionised our ability to carry out genetic research by providing for the first time a detailed route map of the human genome.

‘This has been fundamental to our own research investigating how individuals vary in their DNA sequence and the consequences of this for health and disease.'

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