All data here are released under a Fort Lauderdale Agreement for the benefit of the wider biomedical community for use in the investigation of the genetic causes of IBD and, more generally, medical genetics research. Data and results may not be used in attempts to identify individual study participants. You can freely browse the case-control results; however, we ask that you not publish global (exome-wide) analyses of these data, or analyses of large gene sets, until after an initial Ashkenazi Jewish Inflammatory Bowel Disease paper has been published (estimated to be in Winter 2016). We encourage broad use of the frequency reference data but note that case-control results are provided as general guides and specific results may not have yet been subjected to the data quality, statistical and population genetics review that would normally be required for publication or clinical inference.
If you are uncertain which category your analysis fall into, please email us.
With support from the Helmsley Charitable Trust, we have launched a transformative program of exome sequencing in IBD for which we continue to engage collaborative partners. The overarching aim of the program is to define the full allelic spectrum of protein-altering variation in genes associated to IBD, assess their role in both CD and UC risk, clinical course and response to therapy, and to determine whether loss-of-function variants confer risk or protection in each IBD gene in order to articulate the most opportune therapeutic targets. Recent technical innovations in DNA sequencing and analysis enable exome sequencing to take place at an unprecedented low cost and high accuracy and have facilitated the launch of this program, which aims to evaluate at least 20,000 exomes over the course of the next 2-3 years. To read more about the Helmsley IBD Sequencing program please visit our About page.