ID

45495

Beskrivning

Principal Investigator: Isaac S. Kohane, MD, PhD, Boston Children's Hospital, Boston, MA, USA MeSH: Autistic Disorder,Heart Defects, Congenital,Asthma,Attention Deficit Disorders,Diabetes Mellitus, Type 1,Diabetes Mellitus, Type 2,Epilepsy,Gastrointestinal Diseases,Hypersensitivity,Autoimmune Diseases,Hematologic Diseases,Neoplasms,Arrhythmias, Cardiac,Chromosome Aberrations,Congenital Abnormalities,Dermatology,Developmental Disabilities,Endocrine System,Otolaryngology,Syndrome,Urogenital System,Hearing Loss,Immune System Diseases,Musculoskeletal Abnormalities,Nervous System Diseases,Neuromuscular Diseases,Metabolic Diseases,Nutrition Disorders,Vision Disorders,Mouth Diseases,Mental Disorders,Kidney Diseases,Respiration Disorders,Thyroid Diseases,Vascular Diseases https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000495 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 "*The Gene Partnership*" 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 *P*ediatric *A*lliance for *G*enomic and *E*lectronic Medical Record (EMR) *R*esearch (*PAGER*) site for the eMERGE Phase II network for pediatric institutions, and the cohort for eMERGE at BCH is TGP.

Länk

dbGap study = phs000495

Nyckelord

  1. 16/11/2022 16/11/2022 - Kristina Keller
  2. 13/12/2022 13/12/2022 - Kristina Keller
Rättsinnehavare

Isaac S. Kohane, MD, PhD, Boston Children's Hospital, Boston, MA, USA

Uppladdad den

13 décembre 2022

DOI

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Licens

Creative Commons BY 4.0

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dbGaP phs000495 The Gene Partnership (TGP) - eMERGE Data

Eligibility Criteria

Inclusion and exclusion criteria
Beskrivning

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
*Inclusion Criteria*:
Beskrivning

Elig.phs000495.v1.p1.1

Datatyp

boolean

Alias
UMLS CUI [1,1]
C1512693
Patients seen in the DMC, Genetics Division, Gastroenterology (GI), Endocrinology, Inpatient Medical Service and the Emergency Department at BCH and their parents, siblings, and family members of interest (if available).
Beskrivning

Elig.phs000495.v1.p1.2

Datatyp

boolean

Alias
UMLS CUI [1,1]
C0677578
UMLS CUI [2,1]
C0017163
UMLS CUI [3,1]
C0014137
UMLS CUI [4,1]
C2362761
UMLS CUI [5,1]
C0586082
UMLS CUI [6,1]
C0030551
UMLS CUI [6,2]
C0037047
UMLS CUI [6,3]
C0086282
Patients referred through the Manton Center and their parents, siblings, and family members of interest (if available).
Beskrivning

Elig.phs000495.v1.p1.3

Datatyp

boolean

Alias
UMLS CUI [1,1]
C1552456
UMLS CUI [1,2]
C0030705
UMLS CUI [1,3]
C0037047
UMLS CUI [1,4]
C0086282
UMLS CUI [1,5]
C0030551
People (families or adults) who self-refer and contact the Gene Partnership study staff directly.
Beskrivning

Elig.phs000495.v1.p1.4

Datatyp

boolean

Alias
UMLS CUI [1,1]
C0015576
UMLS CUI [1,2]
C0001675
UMLS CUI [1,3]
C0587950
UMLS CUI [1,4]
C2827447
People who are enrolled in other studies/research registries and have indicated their interest in being contacted about future research.
Beskrivning

Elig.phs000495.v1.p1.5

Datatyp

boolean

Alias
UMLS CUI [1,1]
C0205394
UMLS CUI [1,2]
C0947630
UMLS CUI [1,3]
C0586913
*Exclusion Criteria*:
Beskrivning

Elig.phs000495.v1.p1.6

Datatyp

boolean

Alias
UMLS CUI [1,1]
C0680251
None
Beskrivning

Elig.phs000495.v1.p1.7

Datatyp

boolean

Alias
UMLS CUI [1,1]
C0549184
UMLS CUI [1,2]
C1516637

Similar models

Eligibility Criteria

Name
Typ
Description | Question | Decode (Coded Value)
Datatyp
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Elig.phs000495.v1.p1.1
Item
*Inclusion Criteria*:
boolean
C1512693 (UMLS CUI [1,1])
Elig.phs000495.v1.p1.2
Item
Patients seen in the DMC, Genetics Division, Gastroenterology (GI), Endocrinology, Inpatient Medical Service and the Emergency Department at BCH and their parents, siblings, and family members of interest (if available).
boolean
C0677578 (UMLS CUI [1,1])
C0017163 (UMLS CUI [2,1])
C0014137 (UMLS CUI [3,1])
C2362761 (UMLS CUI [4,1])
C0586082 (UMLS CUI [5,1])
C0030551 (UMLS CUI [6,1])
C0037047 (UMLS CUI [6,2])
C0086282 (UMLS CUI [6,3])
Elig.phs000495.v1.p1.3
Item
Patients referred through the Manton Center and their parents, siblings, and family members of interest (if available).
boolean
C1552456 (UMLS CUI [1,1])
C0030705 (UMLS CUI [1,2])
C0037047 (UMLS CUI [1,3])
C0086282 (UMLS CUI [1,4])
C0030551 (UMLS CUI [1,5])
Elig.phs000495.v1.p1.4
Item
People (families or adults) who self-refer and contact the Gene Partnership study staff directly.
boolean
C0015576 (UMLS CUI [1,1])
C0001675 (UMLS CUI [1,2])
C0587950 (UMLS CUI [1,3])
C2827447 (UMLS CUI [1,4])
Elig.phs000495.v1.p1.5
Item
People who are enrolled in other studies/research registries and have indicated their interest in being contacted about future research.
boolean
C0205394 (UMLS CUI [1,1])
C0947630 (UMLS CUI [1,2])
C0586913 (UMLS CUI [1,3])
Elig.phs000495.v1.p1.6
Item
*Exclusion Criteria*:
boolean
C0680251 (UMLS CUI [1,1])
Elig.phs000495.v1.p1.7
Item
None
boolean
C0549184 (UMLS CUI [1,1])
C1516637 (UMLS CUI [1,2])

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