Regresar

GeIS based on Conceptual Models for the risk assessment of Neuroblastoma

Abstract:

Risk assessment of rare and complex diseases such as Neuroblastoma requires an efficient management of interdisciplinary data. Recent advances in genomic testing are revealing new diagnosis targets whose storage and analysis is becoming a big challenge. The use of Conceptual Models (CM) defining and structuring Neuroblastoma domain serves as a basis to determine the information required for diagnosing the disease. A Genomic Information System (GeIS) built upon a CM, greatly facilitate the integration and management of the heterogeneous and dispersed genomic data. The correct exploitation of the validated dataset leads to an efficient and early risk assessment for patients with Neuroblastoma.