Human Genetics and Genomics: The Science for the 21st Century

Google Tech Talk July 12, 2012 Presented by Ewan Birney. ABSTRACT Since the publication of the human genome in 2001, there has been a fundamental shift in molecular biology research from small scale, hypothesis focused science to larger scale hypothesis generating science. I will describe some of the key components of the last decade's research in this area, including Genomewide Association, the 1,000 genomes project and the ENCODE project and the way these projects draw on cutting edge statistics and algorithm processes. I will then describe the current excitement in applying this to medical issues, with speculation about how the next decade will develop in genome medicine. About the Speaker Dr. Birney is Associate Director of the EMBL-EBI. Before taking up his current post, he developed a number of databases (such as Ensembl), and worked on specific genomics projects, ranging from the Human Genome sequencing in 2000 through to the ENCODE project. For ENCODE he coordinated the analysis for both the 1% Pilot (published in 2007) and the scale up (likely to be published in 2012). As Associate Director, Dr Birney takes a strategic oversight role of the EBI services alongside Rolf Apweiler (the other Associate Director of the EBI). This ranges from genome sequences through proteins, small molecules, macromolecular structures to networks, pathways and systems. Dr Birney still runs a research group which focuses on genomic algorithms and studying inter individual differences, in both human and other species. He writes a blog and is active on Twitter at @ewanbirney Background I was originally trained (in my undergraduate days) as a Biochemist, but moved quickly into Bioinformatics. I published my first set of programs (Pairwise and Searchwise) while I was an undergraduate at Oxford: I benefitted greatly from a year at Adrian Krainer's Lab (at CSHL), time with Toby Gibson (at EMBL) and Iain Campbell's lab at Oxford. I did my PhD with Richard Durbin at the Sanger Institute, and have collaborated with him since. In 2000 I joined the EBI as a Team Leader, became a Senior Scientist in EMBL (EMBL is the parent organisation of EBI) in 2003 and became Associate Director in 2012. I have published around 160 papers [ EBI NCBI Google Scholar ] In 2012 I was elected as a EMBO Fellow (European Molecular Biology Organisation) I have won a number of awards The 2003 Francis Crick Award from the Royal Society 2005 Chris Overton Prize from ICSB The 2005 Benjamin Franklin Award for contributions in Open Source Bioinformatics, awarded by Bioinformatics.org in assocation with BioIT