ID

46131

Descripción

Principal Investigator: Scott T. Weiss, MD, MS, Partners HealthCare System, Boston, MA, USA MeSH: Hypercholesterolemia,Asthma,Arthritis, Rheumatoid,Attention Deficit Disorder with Hyperactivity,Bipolar Disorder,Coronary Disease,Depression,Heart Failure,Inflammatory Bowel Diseases,Multiple Sclerosis,Schizophrenia,Stroke https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000944 The Partners HealthCare Biobank is a large research data and sample repository working within the framework of Partners Personalized Medicine. It provides researchers access to high quality, consented samples to help foster research, advance understanding of the causes of common diseases, and advance the practice of medicine. The Partners Biobank provides banked samples (plasma, serum and DNA) collected from consented patients. These samples are available for distribution to Partners HealthCare investigators with appropriate approval from the Partners Institutional Review board (IRB). They are linked to clinical data that originates in the Electronic Medical Record (EMR), as well as additional health information collected in a self-reported survey. The Partners Biobank will be genotyping 25,000 subjects with the Illumina Multiethnic Beadchip 1.6 million SNPs with exome and custom content ( 60,000 LoFs). Of the participants genotyped so far, 4929 of 4962 (99.3%) individuals have genotype data that passed the default quality thresholds for the Infinium array (call rate = 0.99). We are submitting the genotype data to dbGaP for 4929 subjects with 12 phenotypes (based on icd9 codes). We will do annual releases until we reach the full 25,000 genotyped subjects.

Link

dbgap study id = phs000944

Palabras clave

Versiones (1)
  1. 27/11/24 27/11/24 - Dr. Christian Niklas
Titular de derechos de autor

Scott T. Weiss, MD, MS, Partners HealthCare System, Boston, MA, USA

Subido en

27 de noviembre de 2024

DOI

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Licencia

Creative Commons BY 4.0
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dbGaP phs000944 eMERGE Clinical Center at Partners HealthCare

Inglés

Eligibility Criteria

6 formularios  
Inclusion criteria
Descripción

Inclusion criteria

Alias
UMLS CUI [1,1]
C1512693
Adults ≥ 18 years of age seen at a Partners facility, including employees of Partners Healthcare (PHS) and PHS subsidiaries, such as BWH and MGH.
Descripción

Elig.phs000944.v1.p1.2

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C0001779
Exclusion criteria
Descripción

Exclusion criteria

Alias
UMLS CUI [1,1]
C0680251
< 18 years of age, unless subjects are consented through a collaborating study that approaches pediatric subjects for consent in their study and the Partners Biobank.
Descripción

Elig.phs000944.v1.p1.4

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C0001779
Members of vulnerable patient populations, unless subjects are consented through a collaborating study. Such populations include, but are not limited to:
Descripción

Elig.phs000944.v1.p1.5

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C0949366
Patients who are medically unstable.
Descripción

Elig.phs000944.v1.p1.6

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C0443343
UMLS CUI [1,2]
C0205476
Patients who are acutely ill in the ICU.
Descripción

Elig.phs000944.v1.p1.7

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C0221423
UMLS CUI [1,2]
C0021708
Patients who are pregnant and in active labor*.
Descripción

Elig.phs000944.v1.p1.8

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C0032961
UMLS CUI [1,2]
C0022864
Patients who are deemed to be temporarily or permanently incompetent by his/her treating physician.
Descripción

Elig.phs000944.v1.p1.9

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C0231190
UMLS CUI [1,2]
C0205374
UMLS CUI [2,1]
C0231190
UMLS CUI [2,2]
C0205355
Patients who are in trauma in the ED.
Descripción

Elig.phs000944.v1.p1.10

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C3714660
UMLS CUI [1,2]
C3840745
Employees who directly report to the Principal Investigator or serve on the recruitment team for the Partners Biobank.
Descripción

Elig.phs000944.v1.p1.11

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C0599987
UMLS CUI [1,2]
C0035173
Patients who have withdrawn from the Biobank.
Descripción

Elig.phs000944.v1.p1.12

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C2349954
UMLS CUI [1,2]
C0206512
Subject does not consent to the collection of specimens or use of discarded specimens for the Partners Biobank. *Patients who may be pregnant but are not in active labor may be recruited for the Partners Biobank directly by Partners Biobank recruiters without the participation of a collaborating investigator.
Descripción

Elig.phs000944.v1.p1.13

Tipo de datos

boolean

Alias
UMLS CUI [1,1]
C1518422
UMLS CUI [1,2]
C0021430
UMLS CUI [1,3]
C0200345
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Similar models

Eligibility Criteria

6 formularios
Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de datos
Alias
Item Group
Inclusion criteria
C1512693 (UMLS CUI [1,1])
Elig.phs000944.v1.p1.2
Item
Adults ≥ 18 years of age seen at a Partners facility, including employees of Partners Healthcare (PHS) and PHS subsidiaries, such as BWH and MGH.
boolean
C0001779 (UMLS CUI [1,1])
Item Group
Exclusion criteria
C0680251 (UMLS CUI [1,1])
Elig.phs000944.v1.p1.4
Item
< 18 years of age, unless subjects are consented through a collaborating study that approaches pediatric subjects for consent in their study and the Partners Biobank.
boolean
C0001779 (UMLS CUI [1,1])
Elig.phs000944.v1.p1.5
Item
Members of vulnerable patient populations, unless subjects are consented through a collaborating study. Such populations include, but are not limited to:
boolean
C0949366 (UMLS CUI [1,1])
Elig.phs000944.v1.p1.6
Item
Patients who are medically unstable.
boolean
C0443343 (UMLS CUI [1,1])
C0205476 (UMLS CUI [1,2])
Elig.phs000944.v1.p1.7
Item
Patients who are acutely ill in the ICU.
boolean
C0221423 (UMLS CUI [1,1])
C0021708 (UMLS CUI [1,2])
Elig.phs000944.v1.p1.8
Item
Patients who are pregnant and in active labor*.
boolean
C0032961 (UMLS CUI [1,1])
C0022864 (UMLS CUI [1,2])
Elig.phs000944.v1.p1.9
Item
Patients who are deemed to be temporarily or permanently incompetent by his/her treating physician.
boolean
C0231190 (UMLS CUI [1,1])
C0205374 (UMLS CUI [1,2])
C0231190 (UMLS CUI [2,1])
C0205355 (UMLS CUI [2,2])
Elig.phs000944.v1.p1.10
Item
Patients who are in trauma in the ED.
boolean
C3714660 (UMLS CUI [1,1])
C3840745 (UMLS CUI [1,2])
Elig.phs000944.v1.p1.11
Item
Employees who directly report to the Principal Investigator or serve on the recruitment team for the Partners Biobank.
boolean
C0599987 (UMLS CUI [1,1])
C0035173 (UMLS CUI [1,2])
Elig.phs000944.v1.p1.12
Item
Patients who have withdrawn from the Biobank.
boolean
C2349954 (UMLS CUI [1,1])
C0206512 (UMLS CUI [1,2])
Elig.phs000944.v1.p1.13
Item
Subject does not consent to the collection of specimens or use of discarded specimens for the Partners Biobank. *Patients who may be pregnant but are not in active labor may be recruited for the Partners Biobank directly by Partners Biobank recruiters without the participation of a collaborating investigator.
boolean
C1518422 (UMLS CUI [1,1])
C0021430 (UMLS CUI [1,2])
C0200345 (UMLS CUI [1,3])
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