0 Ratings
ID

45495

Description

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.

Link

dbGap study = phs000495

Keywords

Versions (2)
  1. 11/16/22 11/16/22 - Kristina Keller
  2. 12/13/22 12/13/22 - Kristina Keller
Copyright Holder

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

Uploaded on

December 13, 2022

DOI

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License

Creative Commons BY 4.0
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    dbGaP phs000495 The Gene Partnership (TGP) - eMERGE Data

    English

    Eligibility Criteria

    5 forms  
    Inclusion and exclusion criteria
    Description

    Inclusion and exclusion criteria

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

    Elig.phs000495.v1.p1.1

    Data type

    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).
    Description

    Elig.phs000495.v1.p1.2

    Data type

    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).
    Description

    Elig.phs000495.v1.p1.3

    Data type

    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.
    Description

    Elig.phs000495.v1.p1.4

    Data type

    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.
    Description

    Elig.phs000495.v1.p1.5

    Data type

    boolean

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

    Elig.phs000495.v1.p1.6

    Data type

    boolean

    Alias
    UMLS CUI [1,1]
    C0680251
    None
    Description

    Elig.phs000495.v1.p1.7

    Data type

    boolean

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

    Eligibility Criteria

    5 forms
    Name
    Type
    Description | Question | Decode (Coded Value)
    Data type
    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])
    Back to the top of the page 

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