 I'm Ben Solomon, I'm the Chief of the Division of Medical Genomics at the ANOVA Translational Medicine Institute, which is part of the ANOVA Health System. And Teresa Lee and I are going to talk about our recent paper in Molecular Genetics and Genomic Medicine, which is entitled, A 2.5 Year Snapshot of Mendelian Discovery. And I think it's fair to say that since the first publications in the end of 2009 and early 2010, new efficient genomic sequencing techniques have really dramatically changed how we approach patients, both from a research standpoint as well as from a clinical perspective. And in this paper, we tried to ask just a very simple question. In the last few years or so, how have these sequencing techniques changed how we've discovered new Mendelian disease genes? To look at the ways that new disease genes are identified, we reviewed the literature for about a two and a half year period, from early 2013 through late 2015. We chose this time frame since it starts after the initial publication and launch of the clinical genomic database, a project run by some of the co-authors on this paper. This is also an interesting period since the use of exomes in both research and clinical practice became increasingly prevalent during this time. For this analysis, we only included genes newly identified as related to human disease, not new allelic conditions. We only looked at monogenic causes of disease, not contiguous gene syndromes. Though challenging to parse, we attempted to only include Mendelian causes of disease, not susceptibility factors such as identified by GWAS methods. Within each study, we looked at the methods that were used for gene identification, including candidate gene studies, exome sequencing, genome sequencing, or other methods. We also looked at related methods that were part of the process, such as linkage analysis or homozygosity mapping. We also examined whether any bench-based functional studies were performed beyond clinical care and phenotyping and bioinformatic analysis. So at this point, what I want to do is go over some of the highlights from the results. I also want to point out that I'm not going to go over all the results here, but there's much more detail in the paper itself and especially in the supplemental data that's supplied along with the article in the journal. So overall, in this about two-and-a-half-year period, 445 new Mendelian disease genes were discovered. And so in that period, that averages to over 14 new disease genes a month, which is, I think by anyone's standards, very impressive. These 445 genes were represented in 492 articles, and the reason there are more articles than genes is that we simultaneously counted articles that came out separately about the same gene at the same time. So of the few of the important findings that we noticed, overall, 80% of the papers used some type of genomic sequencing as a discovery method. And when I say genomic sequencing, I refer to both exome sequencing and whole genome sequencing. One of the more impressive findings was that 47% of the articles used exome sequencing alone. That is, exome sequencing was the only technique that was used, homozygosity mapping, linkage analysis, those other types of studies weren't used besides exome sequencing. So within this two-year period, we wanted to see if things had changed, even within this short time frame. So we divided things up chronologically by the PubMed ID numbers. And we admit that this isn't an exact precise measurement of when things were published, but we use this as an estimate. And we find that there was a statistically significant difference in those two halves such that in the second half of the PubMed IDs, there was even more genomic sequencing that was performed. Other results include the fact that only 8% of the studies use a traditional candidate gene approach by itself. Though another 10% of the studies use candidate gene studies with other methods without genomic sequencing, that would be such as candidate gene studies with linkage analysis or homozygosity mapping. We looked at how many studies include some type of bench-based analysis to look at the functional effects of the mutations or understand the biological underpinnings of the disease. And 73% of the overall studies included bench-based functional studies beyond the bioinformatic analyses, clinical phenotyping, and sequencing type techniques. I think it's also important to point out that there was a big difference between the type of functional analyses that were done. Some were shorter-term analyses done just to look at the deleteriousness of the particular mutation and some were full-blown animal models to really try to better understand a lot about the molecular mechanisms behind the disorder and the genes that were being studied. We also wanted to see how many patients or families were reported in the studies. So overall, 4% of the studies reported only a single patient, 23% of the studies reported a single family, 19% of the studies first identified mutations in a single person or a single family and then went on to find other unrelated mutation-positive individuals in other cohorts. So finally, after talking about some of the results, I want to go on to mention some of the interesting points for discussion. First of all, it's really dramatic how much the discovery of new Mendelian genes has changed even within the last 5 to 10 years, and I think it'll be fascinating to see how this continues to evolve as new methods develop and as new ways to understand the causes of these conditions are discovered. Secondly, while I am a huge proponent of bioinformatic analyses and whole genome sequencing, I think it's equally important to emphasize traditional lab-based work to really understand what these mutations cause and how they cause disease, and therefore, how that can enable us to help better take care of patients, perhaps develop new therapies, and overall think of things from a really management-oriented, translational perspective. Third, and very much related to the previous point, it's critical that we continue to gather data and evidence that show that these kinds of discoveries positively impact patients and families. And it's this kind of information that will help bring genomic medicine to many patients worldwide, and so we can provide this kind of information for various stakeholders, including hospital systems, insurance agencies, funding organizations, and others, again, to show the power of genomic medicine. Thank you so much.