Biomedical visual data analysis to build an intelligent diagnostic decision support system in medical genetics

Dysmorphology is an area of clinical genetics that is concerned with abnormal patterns of human development and syndrome diagnosis in patients who possess congenital malformations and unusual facial features, often with delayed motor and cognitive development [1]. A high degree of experience and expertise is required to diagnose a dysmorphic patient correctly [2] because most of these syndromes are very rare. However, in some parts of the world, the diagnosis of syndromes is generally performed by medical professionals who are not well trained in dysmorphology, such as general practitioners, pediatricians, or dermatologists, rather than medical geneticists, because the latter are scarce.

Source: Artificial Intelligence in Medicine - August 23, 2014 Category: Bioinformatics Authors: Kaya Kuru, Mahesan Niranjan, Yusuf Tunca, Erhan Osvank, Tayyaba Azim Source Type: research