ID

45374

Descrição

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

Palavras-chave

  1. 04/11/22 04/11/22 - Chiara Middel
Titular dos direitos

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

Transferido a

4 novembre 2022

DOI

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Licença

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
Descrição

pht002963

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

SUBJID

Tipo de dados

text

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

SAMPLE_ID

Tipo de dados

text

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

SAMPLE_USE

Tipo de dados

text

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

Similar models

Subject - Sample Mapping

Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de dados
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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