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Article

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

Yearbook of medical informatics - 15 Aug 2014

Frey L J, Lenert L, Lopez-Campos G

Abstract excerpt

OBJECTIVES: 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...

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PMID: 25123744
DOI: 10.15265/IY-2014-0006
PMCID: PMC4287080

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