ID

45374

Beschreibung

Principal Investigator: Hakon Hakonarson, MD, PhD, Center for Applied Genomics, Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA MeSH: Asthma,Attention Deficit Disorder with Hyperactivity,Dermatitis, Atopic,Gastroesophageal Reflux,Lipoproteins, LDL https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000490 The Center for Applied Genomics (CAG) at the Children's Hospital of Philadelphia (CHOP) is a high-throughput, highly automated genotyping and sequencing facility equipped with state-of-the-art genotyping and sequencing platforms. Children who are treated at the Children's Hospital Healthcare Network and their parents may be eligible to take part in a major initiative to collect more than 100,000 blood samples, covering a wide range of pediatric diseases. A large majority of participants consenting to prospective genomic analyses also consent to analysis of their de-identified electronic medical records (EMRs). EMRs are longitudinal, with a mean duration of 6.5 years. CAG has committed to releasing genotype and phenotype data for 4000 individuals diagnosed with *asthma*, *ADHD*, *atopic dermatitis*, *GERD* (1000 for each), and 1000 individuals on the upper and lower ranges of *Low-Density Lipoprotein* (LDL) levels to dbGaP. We will also release genotype/phenotype of 3000 controls. Relevant phenotype data includes primary diagnoses (ICD9 codes), secondary diagnoses (ICD9 codes), medical procedures/tests conducted in relation to the phenotype, and a listing of relevant medications. Further details of CAG's research programs and capacity are available at: http://www.caglab.org

Link

dbGap-study=phs000490

Stichworte

  1. 11/4/22 11/4/22 - Chiara Middel
Rechteinhaber

Hakon Hakonarson, MD, PhD, Center for Applied Genomics, Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA

Hochgeladen am

November 4, 2022

DOI

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Lizenz

Creative Commons BY 4.0

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dbGaP phs000490 A Study of the Genetic Causes of Complex Pediatric Disorders

Eligibility Criteria

Inclusion and exclusion criteria
Beschreibung

Inclusion and exclusion criteria

Samples are selected from the CAG biobank and are included based on clinician's diagnosis as per ICD9 code.
Beschreibung

Elig.phs000490.v1.p1.1

Datentyp

boolean

Alias
UMLS CUI [1,1]
C0681875
UMLS CUI [1,2]
C3824747
UMLS CUI [1,3]
C1512693
UMLS CUI [1,4]
C1550213

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Eligibility Criteria

Name
Typ
Description | Question | Decode (Coded Value)
Datentyp
Alias
Item Group
Inclusion and exclusion criteria
Elig.phs000490.v1.p1.1
Item
Samples are selected from the CAG biobank and are included based on clinician's diagnosis as per ICD9 code.
boolean
C0681875 (UMLS CUI [1,1])
C3824747 (UMLS CUI [1,2])
C1512693 (UMLS CUI [1,3])
C1550213 (UMLS CUI [1,4])

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