Bioinformatics is a new scientific field. It applies computational and analysis tools to the capture, analyze and interpret large quantities of biological data. To understand genomic information, comparative analysis of data obtained is crucial. Primary physicians are dauntingly being implored to evaluate patients genetically, and analyze the results received. We depict online tools available for defining the clinical characteristics of a patient (phenotype), assisting in compiling them into a tentative genetic clinical diagnosis. The subsequent step is to then learn the patient's genotype and how to curate a specific genetic copy number or sequence variant. The online resources available to assist in this arduous process are described.
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© 2019 Elsevier Masson SAS
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