The Process of rare disease identification by clinical geneticists is closely associated with the ability to correlate the phenotype of a patient with the relevant genetic syndromes. In order to perform this correlation, the phenotype has to be descr...
Diagnosing rare diseases can be challenging for clinicians. This article gives an overview on novel approaches, which enable automated phenotype-driven analyses of differential diagnoses for rare diseases as well as genomic variation data of affected...
Asthma and chronic obstructive pulmonary disease (COPD) are common lung diseases characterized by chronic airway inflammation and airway obstruction. Among patient with COPD and asthma; there is a group of patients with an overlap between clinical, f...
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