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.
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