EMERGE: Genetic Discovery and Application in a Clinical Setting: Continuing a Partnership (eMERGE Phase 2)
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PROVIDER: PRJNA288842 | ENA |
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Project description:eMERGE: Genetic Discovery and Application in a Clinical Setting: Continuing a Partnership (eMERGE Phase 2)
| PRJNA288843 | ENA
Project description:<p>The Gene Partnership (TGP) is a prospective longitudinal registry at Boston Children's Hospital (BCH) to study the genetic and environmental contributions to childhood health and disease, collect genetic information on a large number of children who have been phenotyped, and implement the Informed Cohort and the Informed Cohort Oversight Board (ICOB). The term "<i>The Gene Partnership</i>" reflects a partnership between researchers and participants. Children seen at BCH are offered enrollment, as are their parents and siblings. DNA is collected on all enrollees. BCH has a comprehensive EMR system, and virtually all inpatient and outpatient data are captured electronically. Clinical data in the BCH EMR is loaded in the i2b2 data warehouse which is available to investigators. Cases, phenotypes, and covariates are ascertained using the i2b2 database. Participants at BCH in TGP have consented to receive any research result and/or incidental finding that arises from studies using TGP that is approved by the Informed Cohort Oversight Board (ICOB) and is in accordance with the participants' preferences; results are returned through the Personally Controlled Health Record (PCHR). BCH and Cincinnati Children's Hospital Medical Center (CCHMC) have partnered as the <b>P</b>ediatric <b>A</b>lliance for <b>G</b>enomic and <b>E</b>lectronic Medical Record (EMR) <b>R</b>esearch (<b>PAGER</b>) site for the eMERGE Phase II network for pediatric institutions, and the cohort for eMERGE at BCH is TGP.</p>
| phs000495.v1.p1 | EGA
Project description:<p>The electronic Medical Records and Genomics (eMERGE) Network is a consortium of ten participating sites funded by the NHGRI to investigate the use of electronic medical record systems for genomic research. The goal of eMERGE is to conduct genome-wide association studies in approximately 19,000 individuals using EMR-derived phenotypes and DNA from linked Biorepositories. The eMERGE Network brings together researchers with a wide range of expertise in genomics, statistics, ethics, informatics, and clinical medicine from leading medical research institutions across the country. Each center participating in the consortium is uniquely situated to provide critical resources to this highly collaborative and productive network. Each site combines a biobank or study cohort with extensive genomic data and access to clinical data derived from electronic medical records. Sites are geographically dispersed and have diverse patient populations, including two sites focusing specifically on pediatrics. </p> <p>The eMERGE Network is comprised of 9 sites and one coordinating center. Each site maintains its own biorepository where DNA specimens are linked to phenotypic data contained within EMRs.</p> <p> <ul> <p><b>Children's Hospital of Pennsylvania</b>, PI: Hakon Hakonarson, MD, PhD </p> <p><b>Cincinnati Children's Medical Center with Boston Children's Hospital</b>, PI: John Harley, MD, PhD - CCHMC and Ingrid Holm, MD, MPH - BCH </p> <p><b>Geisinger Health System</b>, PI: David Carey, PhD and Marc Williams, MD </p> <p><b>Group Health Cooperative with University of Washington</b>, PI: Eric Larson, MD, MPH - GHC and Gail Jarvik, MD, PhD - UW </p> <p><b>Marshfield Clinic with Essentia Institute of Rural Health</b>, PI: Catherine McCarty, PhD, MPH - Essentia and Murray Brilliant, PhD - Marshfield </p> <p><b>Mayo Clinic</b>, PI: Christopher Chute, MD, DrPH and Iftikhar Kullo, MD </p> <p><b>Icahn School of Medicine at Mount Sinai</b>, PI: Erwin Bottinger, MD </p> <p><b>Northwestern University</b>, PI: Rex Chisholm, PhD and Maureen Smith, MS </p> <p><b>Vanderbilt University</b>, PI: Dan Roden, MD </p> <p><b>eMERGE Coordinating Center</b> - Vanderbilt University, PI: Paul Harris, PhD </p> </ul> </p> <p>Using electronic phenotyping methods, the consortium used DNA samples from all participating sites to explore the genetic determinants of red cell indices, white blood count (WBC) differential, diabetic retinopathy, height, serum lipid levels, specifically total cholesterol, HDL (high density lipoprotein), LDL (low density lipoprotein), and triglycerides, and autoimmune hypothyroidism as well as using the phenome-wide association study (PheWAS) paradigm to replicate and discover relationships between targeted genotypes with multiple phenotypes.</p>
| phs000948 | dbGaP
Project description:eMERGE III: CCHMC - eMERGE Cohorts - Phase IIIA
| PRJNA299710 | ENA
Project description:<p>The Gene Partnership (TGP) is a prospective longitudinal registry at Boston Children's Hospital (BCH) to study the genetic and environmental contributions to childhood health and disease, collect genetic information on a large number of children who have been phenotyped, and implement the Informed Cohort and the Informed Cohort Oversight Board (ICOB). The term "<i>The Gene Partnership</i>" reflects a partnership between researchers and participants. Children seen at BCH are offered enrollment, as are their parents and siblings. DNA is collected on all enrollees. BCH has a comprehensive EMR system, and virtually all inpatient and outpatient data are captured electronically. Clinical data in the BCH EMR is loaded in the i2b2 data warehouse which is available to investigators. Cases, phenotypes, and covariates are ascertained using the i2b2 database. Participants at BCH in TGP have consented to receive any research result and/or incidental finding that arises from studies using TGP that is approved by the Informed Cohort Oversight Board (ICOB) and is in accordance with the participants' preferences; results are returned through the Personally Controlled Health Record (PCHR). BCH and Cincinnati Children's Hospital Medical Center (CCHMC) have partnered as the <b>P</b>ediatric <b>A</b>lliance for <b>G</b>enomic and <b>E</b>lectronic Medical Record (EMR) <b>R</b>esearch (<b>PAGER</b>) site for the eMERGE Phase II network for pediatric institutions, and the cohort for eMERGE at BCH is TGP.</p>
| phs000495 | dbGaP
Project description:eMERGE: Northwestern (NUgene) WGS
| PRJNA339189 | ENA
Project description:electronic Medical Records & Genomics (eMERGE)
| PRJNA158491 | ENA
Project description:eMERGE Pediatric Studies at CHOP
| PRJNA161479 | ENA