ID

45374

Description

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

Keywords

  1. 11/4/22 11/4/22 - Chiara Middel
Copyright Holder

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

Uploaded on

November 4, 2022

DOI

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License

Creative Commons BY 4.0

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

Subject - Sample Mapping

pht002963
Description

pht002963

Randomly-generated 6-digit ID code preceded by CHOP ID code (95)
Description

SUBJID

Data type

text

Alias
UMLS CUI [1,1]
C2348585
DNA sample ID code
Description

SAMPLE_ID

Data type

text

Alias
UMLS CUI [1,1]
C1299222
UMLS CUI [1,2]
C0012854
Sample Use
Description

SAMPLE_USE

Data type

text

Alias
UMLS CUI [1,1]
C1524063
UMLS CUI [1,2]
C2347026

Similar models

Subject - Sample Mapping

Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht002963
SUBJID
Item
Randomly-generated 6-digit ID code preceded by CHOP ID code (95)
text
C2348585 (UMLS CUI [1,1])
SAMPLE_ID
Item
DNA sample ID code
text
C1299222 (UMLS CUI [1,1])
C0012854 (UMLS CUI [1,2])
SAMPLE_USE
Item
Sample Use
text
C1524063 (UMLS CUI [1,1])
C2347026 (UMLS CUI [1,2])

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