RESUMO
Precision medicine aims to predict a patient's disease risk and best therapeutic options by using that individual's genetic sequencing data. The Critical Assessment of Genome Interpretation (CAGI) is a community experiment consisting of genotype-phenotype prediction challenges; participants build models, undergo assessment, and share key findings. For CAGI 4, three challenges involved using exome-sequencing data: Crohn's disease, bipolar disorder, and warfarin dosing. Previous CAGI challenges included prior versions of the Crohn's disease challenge. Here, we discuss the range of techniques used for phenotype prediction as well as the methods used for assessing predictive models. Additionally, we outline some of the difficulties associated with making predictions and evaluating them. The lessons learned from the exome challenges can be applied to both research and clinical efforts to improve phenotype prediction from genotype. In addition, these challenges serve as a vehicle for sharing clinical and research exome data in a secure manner with scientists who have a broad range of expertise, contributing to a collaborative effort to advance our understanding of genotype-phenotype relationships.
Assuntos
Transtorno Bipolar/genética , Doença de Crohn/genética , Sequenciamento do Exoma/métodos , Medicina de Precisão/métodos , Varfarina/uso terapêutico , Biologia Computacional/métodos , Bases de Dados Genéticas , Predisposição Genética para Doença , Humanos , Disseminação de Informação , Variantes Farmacogenômicos , Fenótipo , Varfarina/farmacologiaRESUMO
Surgery risk assessment is an effective tool for physicians to manage the treatment of patients, but most current research projects fall short in providing a comprehensive platform to evaluate the patients' surgery risk in terms of different complications. The recent evolution of big data analysis techniques makes it possible to develop a real-time platform to dynamically analyze the surgery risk from large-scale patients information. In this paper, we propose the Intelligent Perioperative System (IPS), a real-time system that assesses the risk of postoperative complications (PC) and dynamically interacts with physicians to improve the predictive results. In order to process large volume patients data in real-time, we design the system by integrating several big data computing and storage frameworks with the high through-output streaming data processing components. We also implement a system prototype along with the visualization results to show the feasibility of system design.