This software compares a patient’s findings to the findings in 9,014 diseases. It suggests a “differential diagnosis” and identifies other findings and lab tests that may be useful in reaching a diagnosis. It uses detailed information about the patient to assist with diagnosis, so it is best to watch one of the demo videos before using it.
The tool includes the 4,716 genes with convincing germline human disease phenotypes. It also includes many nongenetic diseases, with particular strength in neurology and rheumatology.
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US patents 6,212,519, 6,754,655, 7,742,932 and 9,524,373.