Cynthia Morton, PhD spoke about the DGAP project http://www.bwhpathology.org/dgap/
Among the fascinating cases she presented was that of Brenden Adams.
Also discussed the aCGH studies of the microdeletions found in the DGAP. Most of these arrays are used for neurodevelopmental screening and they found single gene insufficiency in several of these cases.
Reviewed the amusingly horrific nomenclature demands for mutations that might arise from massively complex genomic rearrangements.
Savova et al.,
Discussed tighter i2b2 integration with cTAKES. Discussed representation of modifiers and how to communicate to the community which subset of which standardized ontology was used for each term. Pei demonstrated a very impressive preliminary integration.
Ashwin et al.,
Discussed policy and security details about joining an existing registry who have prospectively consented to an identified study with a data mart of IBD patients that contains those very same patients.
Reviewed NLP performance with ~800 gold-standard annotated (399 Crohn's and 378 Ulcerative Colitis) and 201 controls gold-standard annotated (each with approximately 8 years follow-up).
Kohane, Churchill, Murphy, Weber, Mendis, Bicket et al.,
Discussed the agenda for this Summer's AUG and at next week's TBI Summit at AMIA.
Discussed impending very LARGE implementations of SHRINE (independent of this core group).
