MARKER SCREENING AND SIGNAL DETECTION

Systems, methods and computer-readable media are provided for facilitating patient health care through automatic discovery, establishment, and statistical validation of diagnostic-signals in repositories of EMR information, identifying phenotypic diagnostic signals regarding markers or combinations or sequences of patient attributes. Some methods include identifying a first group of patients that have one or more markers and extracting one or more diagnostic statuses that pertain to the whole genome sequencing (WGS) or whole exome sequencing (WES). Statistically significant differences involving frequent itemsets are identified and may be used to evaluate membership of an individual in a class indicative of potential diagnosis via WGS or WES.