The Epilepsy Phenome/Genome Project (EPGP) informatics platform.

International Journal of Medical Informatics
Gerry NesbittEPGP Investigators

Abstract

The Epilepsy Phenome/Genome Project (EPGP) is a large-scale, multi-institutional, collaborative network of 27 epilepsy centers throughout the U.S., Australia, and Argentina, with the objective of collecting detailed phenotypic and genetic data on a large number of epilepsy participants. The goals of EPGP are (1) to perform detailed phenotyping on 3750 participants with specific forms of non-acquired epilepsy and 1500 parents without epilepsy, (2) to obtain DNA samples on these individuals, and (3) to ultimately genotype the samples in order to discover novel genes that cause epilepsy. To carry out the project, a reliable and robust informatics platform was needed for standardized electronic data collection and storage, data quality review, and phenotypic analysis involving cases from multiple sites. EPGP developed its own suite of web-based informatics applications for participant tracking, electronic data collection (using electronic case report forms/surveys), data management, phenotypic data review and validation, specimen tracking, electroencephalograph and neuroimaging storage, and issue tracking. We implemented procedures to train and support end-users at each clinical site. Thus far, 3780 study participants have been enr...Continue Reading

References

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Citations

Dec 3, 2014·Epilepsy & Behavior : E&B·Chad CarlsonUNKNOWN EPGP Investigators
Jul 16, 2015·Clinical and Translational Science·Kathleen McGovernUNKNOWN EPGP Investigators
Sep 3, 2013·Epilepsy & Behavior : E&B·Vaishnav Krishnan, Kaarkuzhali B Krishnamurthy
Nov 28, 2013·BMC Public Health·Medea Imboden, Nicole M Probst-Hensch
Aug 2, 2016·Epilepsy & Behavior : E&B·Derek J ChongUNKNOWN EPGP Investigators
Jun 2, 2017·Neurology·Steven TobochnikUNKNOWN EPGP Investigators
Jan 9, 2013·Epilepsia·Melodie R WinawerUNKNOWN EPGP Investigators
Jun 4, 2015·Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society·Joost B WagenaarAndreas Schulze-Bonhage
Nov 21, 2017·Biomedicine Hub·Gianpiero L CavalleriNorman Delanty

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