DPDL organizes phenotypic and molecular information of a patient in a new computer searchable way (DPDL). The DPDL data structure is a prerequisite for novel scoring approach Prioritization of Exome Data by Image Analysis (PEDIA) and OBM manuscript. PEDIA is the first approach that harnesses the power of computer vision for variant interpretation (Face2Gene)
DPDL is developed by Tzung-Chien Hsieh at IGSB.
A team of data curators is constantly adding the latest case reports from the literature. If you are interested in joining the team as a data curator contact Dr. Martin Mensah (email@example.com) at charite. If you are interested in working on the data scientifically or as an alternative to OMIM, contact Prof. Peter Krawitz (firstname.lastname@example.org).