EHR Big Data Deep Phenotyping. Contribution of the IMIA Genomic Medicine Working Group. 2014

L J Frey, and L Lenert, and G Lopez-Campos
Lewis J Frey, Chair IMIA Genomic Medicine WG, Biomedical Informatics Center, Public Health Sciences, Associate Professor, Hollings Cancer Center, Research Member, Medical University of South Carolina, 135 Cannon Street, Suite 405K, MUSC 200, Charleston, SC 29425. USA, Tel: +1 843 792 4216, Fax: +1 843 792 5587, E-mail: Frey@musc.edu.

OBJECTIVE Given the quickening speed of discovery of variant disease drivers from combined patient genotype and phenotype data, the objective is to provide methodology using big data technology to support the definition of deep phenotypes in medical records. METHODS As the vast stores of genomic information increase with next generation sequencing, the importance of deep phenotyping increases. The growth of genomic data and adoption of Electronic Health Records (EHR) in medicine provides a unique opportunity to integrate phenotype and genotype data into medical records. The method by which collections of clinical findings and other health related data are leveraged to form meaningful phenotypes is an active area of research. Longitudinal data stored in EHRs provide a wealth of information that can be used to construct phenotypes of patients. We focus on a practical problem around data integration for deep phenotype identification within EHR data. The use of big data approaches are described that enable scalable markup of EHR events that can be used for semantic and temporal similarity analysis to support the identification of phenotype and genotype relationships. CONCLUSIONS Stead and colleagues' 2005 concept of using light standards to increase the productivity of software systems by riding on the wave of hardware/processing power is described as a harbinger for designing future healthcare systems. The big data solution, using flexible markup, provides a route to improved utilization of processing power for organizing patient records in genotype and phenotype research.

UI MeSH Term Description Entries
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012984 Software Sequential operating programs and data which instruct the functioning of a digital computer. Computer Programs,Computer Software,Open Source Software,Software Engineering,Software Tools,Computer Applications Software,Computer Programs and Programming,Computer Software Applications,Application, Computer Software,Applications Software, Computer,Applications Softwares, Computer,Applications, Computer Software,Computer Applications Softwares,Computer Program,Computer Software Application,Engineering, Software,Open Source Softwares,Program, Computer,Programs, Computer,Software Application, Computer,Software Applications, Computer,Software Tool,Software, Computer,Software, Computer Applications,Software, Open Source,Softwares, Computer Applications,Softwares, Open Source,Source Software, Open,Source Softwares, Open,Tool, Software,Tools, Software
D057225 Data Mining Use of sophisticated analysis tools to sort through, organize, examine, and combine large sets of information. Text Mining,Mining, Data,Mining, Text
D057286 Electronic Health Records Media that facilitate transportability of pertinent information concerning patient's illness across varied providers and geographic locations. Some versions include direct linkages to online CONSUMER HEALTH INFORMATION that is relevant to the health conditions and treatments related to a specific patient. Electronic Health Record Data,Electronic Medical Record,Electronic Medical Records,Computerized Medical Record,Computerized Medical Records,Electronic Health Record,Medical Record, Computerized,Medical Records, Computerized,Health Record, Electronic,Health Records, Electronic,Medical Record, Electronic,Medical Records, Electronic
D023281 Genomics The systematic study of the complete DNA sequences (GENOME) of organisms. Included is construction of complete genetic, physical, and transcript maps, and the analysis of this structural genomic information on a global scale such as in GENOME WIDE ASSOCIATION STUDIES. Functional Genomics,Structural Genomics,Comparative Genomics,Genomics, Comparative,Genomics, Functional,Genomics, Structural

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