3. From Genome Annotation to Genome Medicine
by Eagle Genomics Ltd. on Apr 16, 2012
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The key note presentation from Tim Hubbard. Presented on Eagle Genomics 2nd symposium 29th March 2012. ...
The key note presentation from Tim Hubbard. Presented on Eagle Genomics 2nd symposium 29th March 2012.
Abstract: "It is now more than 10 years since the draft of the human genome sequence was completed in 2000. Since then there have been global efforts to annotate and analysis the genome, uncover the structure of sequence variation across populations of humans and discover relationships between genotype and phenotype. Our ability to research the function of the human genome with an ever increasing scale of data collection has been made possible by the rapid fall in the cost of DNA sequencing. This fall has been so great that the cost of generating a complete genome sequence will soon be comparable with the cost of existing tests used for medical diagnostics. If personal genomes were stored for reuse they could be queried computationally for little additional cost and in near real time by medical professionals whenever a treatment or diagnosis was known to be influenced by genetic factors. Similarly the combination of cheap genome sequencing and informatics analysis has the potential to transform the treatment and management of cancer and the identification and global surveillance of pathogenic diseases. Multiple reports are now alerting governments to these prospects, such as the 2012 report from the UK Human Genomic Strategy Group. I will discuss how far we have come in annotating the human genome since 2000 and what is now needed to make genome medicine a practical component of human health care."
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