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- Study Description
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Important Links and Information
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Request access via Authorized Access
- Instructions for requestors
- Data Use Certification (DUC) Agreement
- Talking Glossary of Genetic Terms
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
- Study Weblinks:
- Study Design:
- Case-Control
- Study Type:
- Case Set
- Control Set
- dbGaP estimated ancestry using GRAF-pop
- Total number of consented subjects: 7431
- Subject Sample Telemetry Report (SSTR)
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- Authorized Access
- Publicly Available Data
- Link to other NCBI resources related to this study
- Study Inclusion/Exclusion Criteria
Samples are selected from the CAG biobank and are included based on clinician's diagnosis as per ICD9 code.
- Molecular Data
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Type Source Platform Number of Oligos/SNPs SNP Batch Id Comment Whole Genome Genotyping Illumina Human610_Quadv1_B 601273 1048904 - Selected Publications
- Diseases/Traits Related to Study (MeSH terms)
- Authorized Data Access Requests
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See articles in PMC citing this study accession
- Study Attribution
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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.
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Funding Source
- Institutional support. Children's Hospital of Philadelphia, Philadelphia, PA, USA.
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Principal Investigator