There is a course running right now at NHGRI that is covering a timely set of genomics aspects. Called Current Topics in Genome Analysis 2012 (CTGA), it’s going to hit a great series of aspects of the current landscape–and offer a look at the future–in genomics.
On the course page you can download the slides, and watch the YouTube videos of the lecture. I had a chance to watch the first one so far, and I’ll summarize it below. But be sure to check back to the Genome.gov YouTube page or the course page to explore them all as they come along. Here’s the first one, which is important to set the frame for the series.
In the first lecture, Eric Green sets the framework for the course and gives a terrific overview of where we came from prior to having a reference sequence, where we are today, and where we need to go. Much of the same content was covered in the paper (below) so if you want to supplement your understanding of this with all the references that’s a great place to look. A number of the slides used are figures directly from that paper if you want more details and a closer look at the data.
The first part of the seminar covers the historical foundations of the field. It also does a great job of illustrating the major accomplishments since the “end” of the genome project. And he does a survey of the state of the field of genomics. He sets this up in a series of “5 steps in the path to genomic medicine” that begins at about 20 minutes in. The first step covers important genomic elements and human evolution. He highlights projects such as ENCODE and Genome 10k among others. Step 2 covers aspects of human genetic variation, and includes such projects as HapMap and 1000 Genomes. The next step addresses the basis for genomic diseases–and he explains GWAS and describes successes of these types of experiments. He touches briefly on the “missing heritability” and the need to have more sequences to get at these tougher problems. I liked the way he set up his pie charts that described the challenges and the reasons we haven’t had as much impact on the non-monogenic + coding sequence sorts of health issues. The next step covers the new technology (next-generation) that’s racing us through the new sequencing phase and it brings us to the final point. Step 5: Routine analysis of genome sequence. He admits this is further out at this point, and demonstrates the fire hose of data we are facing. He acknowledges that the largest bottleneck in genomics right now is this analysis step. He references other steps to come, of course, as well.
In each of these steps he talk about people who are coming in to expand on these topics in subsequent lectures in the series. Those really sound terrific, and I intend to check them out.
He summarizes this section by saying that we have tremendous amounts of data, great technologies, and incredible opportunities in front of us. And that we are well poised for a revolution in genomic medicine–but that challenges remain. The last 20 minutes or so are spent on a gaze into the future, with those opportunities and challenges. In this section he also references the fact that in sheer cell numbers you are outnumbered by your bacteria 10-1, and how important the human microbiome project is going to be.
Green frames this talk–and this series–as being heavily weighted to “optimists” for genomics. I’m certainly in that category, and I think this is going to be a valuable set of talks. And he also notes that is will be heavily weighted to human genomics and human health–but we know a lot of this technology and knowledge is penetrating other areas too. This particular seminar sets out the foundation for the course, and is definitely worth your time. Check them all out at the GenomeTV channel as they appear.
Course page http://www.genome.gov/12514288
Direct link to YouTube for this lecture: http://youtu.be/GLwCs370IGI
Green, E., Guyer, M., Green, E., Guyer, M., Manolio, T., & Peterson, J. (2011). Charting a course for genomic medicine from base pairs to bedside Nature, 470 (7333), 204-213 DOI: 10.1038/nature09764