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CCDG NP Epilepsy: Epi25 Consortium

CCDGphs001489.v2.p2dbGapdbGap FHIR

Description

Epilepsy genetics research is at an exciting stage where it is now feasible, with the power of a large cohort, to understand the more complex genetic components of epilepsy. The driving principle behind the Epi25 Consortium is collaboration and synergy - it is only possible to achieve this type of research by working together. The Epi25 Consortium was formed by the unification of various consortia, including Epi4K, EPIGEN, EuroEPINOMICS, the Epilepsy Phenome/Genome Project, EpiPGX, SANAD, and EpiCURE, and individual epilepsy investigators. The consortium's sample collection is the best resource in the world for this disease, both in terms of numbers of patients and quality of phenotypic information.

As part of the NHGRI Centers for Common Disease Genomics, we are aggregating a global sample collection from the various repositories for whole genome genotyping and whole exome sequencing (WES) at the Broad Institute (Cambridge, MA), initiating the largest and most ethnically diverse genetic study of epilepsy to date. The primary epilepsy phenotypes for Epi25 are based on strict standards agreed upon by the epilepsy community. The epilepsy cases contributed by Epi25 sites can be defined as genetic generalized epilepsy (GGE), non-acquired focal epilepsy (NAFE), epileptic encephalopathies (EE), and lesional focal epilepsies. The genomic data will be analyzed iteratively to identify genes and variants that explain these types of epilepsy. Summary clinical data compiled in the Epi25 clinical database will allow retrospective phenotypic analyses of groups of subjects with common genomic variant(s).

Stats

69Cohorts
26,416Samples
26,416Participants
34.69 TBSize

Summary

Consent CodesTBD, EPIL_BRAINAB_CONVUL_INTELCT_DIS_MDS, EPIL_BRAIN_AB_INTEL_DIS_MDS, EPIL_BRAIN_AB_MDS, DS-EAED-MDS, GRU, DS-EP-NPU, DS-EP, HMB-IRB-MDS, HMB-NPU-MDS, HMB-MDS, HMB, EPIL_CO_MORBIDI_MDS, DS-CARDI_NEURO, DS-EARET-MDS, DS-EP-ETIOLOGY-MDS, GRU-IRB, DS-EPI-NPU-MDS, DS-NEURO-MDS, GRU-NPU, DS-NPD-IRB-NPU, DS-EPIL-BC-ID-MDS, DS-NEURO-AD-NPU, DS-EPI-MUL-CON-MDS, DS-EP-MDS, DS-SEIZD, DS-EPI-ASZ-MED-MDS, HMB-NPU
Diseasesepilepsy, control
AccessControlled Access
Study DesignCase-Control, TBD, Case Set, Control Set
Data TypesGenotyping Array, Exome

Applying For Access

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Terra Workspaces

This study has been divided into the following workspaces by consent codes and optionally the originating laboratory.

Terra Workspace NameConsent CodeDiseaseAccessStudy DesignData TypeSamplesParticipantsSize (TB)
AnVIL_CCDG_Broad_NP_Epilepsy_AUSALF_HMB_IRB_GSRS_GSA-MDTBDepilepsyCase-ControlGenotyping Array16160.00
AnVIL_CCDG_Broad_NP_Epilepsy_AUSALF_HMB_IRB_GSRS_WESTBDepilepsyTBDExome000.00
AnVIL_CCDG_Broad_NP_Epilepsy_AUSAUS_EP_BA_CN_ID_MDS_WESEPIL_BRAINAB_CONVUL_INTELCT_DIS_MDSepilepsyCase SetExome1,5971,5972.60
AnVIL_CCDG_Broad_NP_Epilepsy_AUSAUS_EPI_BA_ID_MDS_WESEPIL_BRAIN_AB_INTEL_DIS_MDSepilepsyCase SetExome24240.04
AnVIL_CCDG_Broad_NP_Epilepsy_AUSAUS_EPIL_BA_MDS_WESEPIL_BRAIN_AB_MDSepilepsyCase SetExome12120.02
AnVIL_CCDG_Broad_NP_Epilepsy_AUSRMB_DS-EAED-MDS-NPU-IRB_GSA-MDTBDepilepsyCase-ControlGenotyping Array2112110.04
AnVIL_CCDG_Broad_NP_Epilepsy_AUSRMB_DS-EAED-MDS-NPU-IRB_WESTBDepilepsyTBDExome000.00
AnVIL_CCDG_Broad_NP_Epilepsy_AUSRMB_DS-EAED-MDS_WESDS-EAED-MDSepilepsyCase SetExome3833830.58
AnVIL_CCDG_Broad_NP_Epilepsy_AUTMUV_DS_NS_MDS_NPU_GSA-MDTBDepilepsyCase-ControlGenotyping Array1011010.02
AnVIL_CCDG_Broad_NP_Epilepsy_AUTMUV_DS_NS_MDS_NPU_WESTBDepilepsyTBDExome000.00
AnVIL_CCDG_Broad_NP_Epilepsy_AUTMUV_DS_NS_NPU_ADLT_GSA-MDTBDepilepsyCase-ControlGenotyping Array11110.00
AnVIL_CCDG_Broad_NP_Epilepsy_AUTMUV_DS_NS_NPU_ADLT_WESTBDepilepsyTBDExome000.00
AnVIL_CCDG_Broad_NP_Epilepsy_BELATW_GRU_WESGRUepilepsyCase SetExome1071070.19
AnVIL_CCDG_Broad_NP_Epilepsy_BELULB_DS-EP-NPU_WESDS-EP-NPUepilepsyCase SetExome4154150.66
AnVIL_CCDG_Broad_NP_Epilepsy_BRAUSP_DS_MDS_NPU_GSA-MDTBDepilepsyCase-ControlGenotyping Array440.00
AnVIL_CCDG_Broad_NP_Epilepsy_BRAUSP_DS_MDS_NPU_WESTBDepilepsyTBDExome000.00
AnVIL_CCDG_Broad_NP_Epilepsy_CANCAL_GRU_WESTBDepilepsyTBDExome000.00
AnVIL_CCDG_Broad_NP_Epilepsy_CANUTN_DS-EP_WESDS-EPepilepsyCase SetExome1431430.23
AnVIL_CCDG_Broad_NP_Epilepsy_CHEUBB_HMB_IRB_MDS_WESHMB-IRB-MDSepilepsyCase SetExome47470.04
AnVIL_CCDG_Broad_NP_Epilepsy_CYPCYP_HMB_NPU_MDS_WESHMB-NPU-MDSepilepsyCase SetExome1791790.29
AnVIL_CCDG_Broad_NP_Epilepsy_CZEMTH_GRU_WESGRUepilepsyCase SetExome16160.03
AnVIL_CCDG_Broad_NP_Epilepsy_DEUPUM_HMB_MDS_WESHMB-MDSepilepsyCase SetExome3253250.44
AnVIL_CCDG_Broad_NP_Epilepsy_DEUUKB_HMB_NPU_MDS_WESHMB-NPU-MDSepilepsyCase SetExome2,4982,4983.78
AnVIL_CCDG_Broad_NP_Epilepsy_DEUUKL_HMB_WESHMBepilepsyCase SetExome2092090.37
AnVIL_CCDG_Broad_NP_Epilepsy_DEUULG_GRU_WESGRUepilepsyCase SetExome90900.15
AnVIL_CCDG_Broad_NP_Epilepsy_DEUUTB_HMB-NPU-MDS_WESHMB-NPU-MDSepilepsyCase SetExome1,6541,6542.31
AnVIL_CCDG_Broad_NP_Epilepsy_FINKPH_EPIL_CO_MORBIDI_MDS_WESEPIL_CO_MORBIDI_MDSepilepsyCase SetExome9049041.37
AnVIL_CCDG_Broad_NP_Epilepsy_FINUVH_HMB_NPU_MDS_WESHMB-NPU-MDSepilepsyCase SetExome1001000.17
AnVIL_CCDG_Broad_NP_Epilepsy_GBRSWU_CARDI_NEURO_WESDS-CARDI_NEUROepilepsyCase SetExome3053050.38
AnVIL_CCDG_Broad_NP_Epilepsy_GBRUCL_DS_EARET_MDS_WESDS-EARET-MDSepilepsyCase SetExome6846841.25
AnVIL_CCDG_Broad_NP_Epilepsy_GBRUNL_EP_ETIOLOGY_MDS_WESDS-EP-ETIOLOGY-MDSepilepsyCase SetExome4584580.92
AnVIL_CCDG_Broad_NP_Epilepsy_GBRUNL_GRU_WESGRUepilepsyCase SetExome55550.12
AnVIL_CCDG_Broad_NP_Epilepsy_GHAKNT_GRU_GSA-MDTBDepilepsyTBDGenotyping Array6416410.11
AnVIL_CCDG_Broad_NP_Epilepsy_HKGHKK_HMB_MDS_WESHMB-MDSepilepsyCase SetExome6656650.64
AnVIL_CCDG_Broad_NP_Epilepsy_HKOSB_GRU_GSA-MDTBDepilepsyTBDGenotyping Array1151150.02
AnVIL_CCDG_Broad_NP_Epilepsy_HRVUZG_HMB_MDS_WESHMB-MDSepilepsyCase SetExome36360.06
AnVIL_CCDG_Broad_NP_Epilepsy_IRLRCI_GRU_IRB_WESGRU-IRBepilepsyCase SetExome9339331.53
AnVIL_CCDG_Broad_NP_Epilepsy_ITAICB_HMB_NPU_MDS_WESHMB-NPU-MDSepilepsyTBDExome4244240.56
AnVIL_CCDG_Broad_NP_Epilepsy_ITAIGI_GRU_WESGRUepilepsyTBDExome1,1491,1491.70
AnVIL_CCDG_Broad_NP_Epilepsy_ITAUBG_DS_EPI_NPU_MDS_WESDS-EPI-NPU-MDSepilepsyTBDExome6056050.85
AnVIL_CCDG_Broad_NP_Epilepsy_ITAUMC_DS_NEURO_MDS_WESDS-NEURO-MDSepilepsyTBDExome4124120.64
AnVIL_CCDG_Broad_NP_Epilepsy_ITAUMR_GRU_NPU_WESGRU-NPUepilepsyTBDExome1,0861,0861.86
AnVIL_CCDG_Broad_NP_Epilepsy_JPNRKI_DS_NPD_IRB_NPU_WESDS-NPD-IRB-NPUepilepsyCase SetExome94940.19
AnVIL_CCDG_Broad_NP_Epilepsy_KENKIL_GRU_GSA-MDTBDepilepsyTBDGenotyping Array4494490.08
AnVIL_CCDG_Broad_NP_Epilepsy_LTUUHK_HMB_NPU_MDS_WESHMB-NPU-MDSepilepsyCase SetExome2962960.48
AnVIL_CCDG_Broad_NP_Epilepsy_NZLUTO_EPIL_BC_ID_MDS_WESDS-EPIL-BC-ID-MDSepilepsyCase SetExome2632630.39
AnVIL_CCDG_Broad_NP_Epilepsy_TURBZU_GRU_WESGRUepilepsyCase SetExome2082080.34
AnVIL_CCDG_Broad_NP_Epilepsy_TURIBU_DS_NEURO_AD_NPU_WESDS-NEURO-AD-NPUepilepsyCase-ControlExome1631630.29
AnVIL_CCDG_Broad_NP_Epilepsy_TWNCGM_HMB-NPU-ADULTS_GSA-MDTBDepilepsyTBDGenotyping Array1,0361,0360.18
AnVIL_CCDG_Broad_NP_Epilepsy_USABCH_EPI_MUL_CON_MDS_WESDS-EPI-MUL-CON-MDSepilepsyCase SetExome3183180.42
AnVIL_CCDG_Broad_NP_Epilepsy_USACCF_HMB-MDS_GSA-MDTBDepilepsyCase-ControlGenotyping Array3783780.07
AnVIL_CCDG_Broad_NP_Epilepsy_USACHP_GRU_WESGRUepilepsyCase-ControlExome3,3333,3334.41
AnVIL_CCDG_Broad_NP_Epilepsy_USACRW_DS_EP_MDS_WESDS-EP-MDSepilepsyCase SetExome3263260.61
AnVIL_CCDG_Broad_NP_Epilepsy_USACRW_DS_SEIZD_WESDS-SEIZDepilepsyCase SetExome1521520.31
AnVIL_CCDG_Broad_NP_Epilepsy_USACRW_EPI_ASZ_MED_MDS_WESDS-EPI-ASZ-MED-MDSepilepsyCase SetExome37370.06
AnVIL_CCDG_Broad_NP_Epilepsy_USAEGP_GRU_WESGRUepilepsyCase SetExome1271270.21
AnVIL_CCDG_Broad_NP_Epilepsy_USAHEP_GRU_WESGRUepilepsyCase SetExome3223220.45
AnVIL_CCDG_Broad_NP_Epilepsy_USALCH_HMB_MDS_GSA-MDTBDepilepsyCase-ControlGenotyping Array770.00
AnVIL_CCDG_Broad_NP_Epilepsy_USALCH_HMB_MDS_WESTBDepilepsyTBDExome000.00
AnVIL_CCDG_Broad_NP_Epilepsy_USAMGH_HMB_MDS_GSA-MDTBDepilepsyTBDGenotyping Array21210.00
AnVIL_CCDG_Broad_NP_Epilepsy_USAMON_HMB_NPU_MDS_GSA-MDTBDepilepsyCase-ControlGenotyping Array440.00
AnVIL_CCDG_Broad_NP_Epilepsy_USAMON_HMB_NPU_MDS_WESTBDepilepsyTBDExome000.00
AnVIL_CCDG_Broad_NP_Epilepsy_USAMSS_DS_EP_NEURO_MDS_GSA-MDTBDepilepsyCase-ControlGenotyping Array1451450.03
AnVIL_CCDG_Broad_NP_Epilepsy_USANCH_DS_NEURO_MDS_WESDS-NEURO-MDSepilepsyCase SetExome3133130.53
AnVIL_CCDG_Broad_NP_Epilepsy_USAUPN_Marsh_GRU_NPU_WESGRU-NPUepilepsyCase SetExome41410.04
AnVIL_CCDG_Broad_NP_Epilepsy_USAUPN_Marsh_GRU_WESGRUepilepsyCase SetExome3413410.39
AnVIL_CCDG_Broad_NP_Epilepsy_USAUPN_Rader_GRU_WESGRUepilepsyCase SetExome8228220.95
AnVIL_CCDG_Broad_NP_Epilepsy_ZAFAGN_DS-EPI-COMO-MDS_GSA-MDTBDepilepsyTBDGenotyping Array5045040.09
AnVIL_CCDG_Broad_Spalletta_HMB_NPU_MDS_WESHMB-NPUcontrolControl SetExome1021020.16