Automatic Integration of Clinical and Genetic Data Using cBioPortal

• DOI: 10.3233/shti220189
• Publication Date: 2022-06-07T09:33:48Z
• Authors: Mauricio Brunner; Lucas Mullen; Federico Jauk; Javier Oliver; Federico Cayol; José Minata; Victor Herrera; Walter Pavicic; Daniel Luna; Marcelo Risk; Hernan Garcia Riv...; Sonia Benitez
• Keywords: 0301 basic medicine; 0303 health sciences; Genomics; MEDICAL INFORMATICS; 3. Good health; 03 medical and health sciences; PRECISION MEDICINE; Neoplasms; https://purl.org/becyt/ford/3.2; Electronic Health Records; Humans; https://purl.org/becyt/ford/3; Precision Medicine; GENOMICS; Medical Informatics; Software

Precision medicine seeks to improve the prevention, diagnosis and treatment of patients based on genetic characteristics unique to each person. In oncology, therapeutic decisions have been established based on the genomic characteristics of each patient’s tumor. Data integration is key for the successful implementation of precision medicine since it is necessary for both studying a large volume of data from different sources and working with an interdisciplinary and translational vision. In this work, a bioinformatic process was successfully implemented that allows the integration of patients’ genomic data, from two molecular biology laboratories, with their clinical data provided by their electronic medical records. For this, the REDCap data capture software, the cBioPortal visualization and analysis software, and a computer tool developed to automate the processing and annotation of the information in REDCap were used to be included in cBioPortal, for the “Map of Tumor Genomic Actionability of Argentina” project.