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
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Keywords
Versions (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
- StudyEvent: SEV1
- Eligibility Criteria
- Subject - Consent - Affection Status
- Pedigree Information
- Subject - Sample Mapping
- This dataset includes ICD9 codes of participants diagnosed with Asthma, type of medication prescribed, medical history, and basic demographic data.
- This dataset includes ICD9 codes of participants diagnosed with Atopic Dermatitis (AD), AD procedure codes, medication prescribed, and basic demographic data.
- This dataset includes ICD9 codes of participants regarded as control subjects, medication prescribed, and basic demographic data.
- This dataset includes ICD9 codes of participants diagnosed with Gastroesophageal Reflux Disease (GERD), procedures performed, medication prescribed, and basic demographic data.
- This dataset includes ICD9 codes of participants diagnosed with ADHD (primary/secondary diagnoses), medication prescribed and basic demographic data.
- This dataset includes ICD9 codes of primary/secondary diagnoses of participants diagnosed with high or low Low-Density Lipoprotein levels, lipid procedure codes, data of lipid values and basic demographic data.
Similar models
Subject - Sample Mapping
- StudyEvent: SEV1
- Eligibility Criteria
- Subject - Consent - Affection Status
- Pedigree Information
- Subject - Sample Mapping
- This dataset includes ICD9 codes of participants diagnosed with Asthma, type of medication prescribed, medical history, and basic demographic data.
- This dataset includes ICD9 codes of participants diagnosed with Atopic Dermatitis (AD), AD procedure codes, medication prescribed, and basic demographic data.
- This dataset includes ICD9 codes of participants regarded as control subjects, medication prescribed, and basic demographic data.
- This dataset includes ICD9 codes of participants diagnosed with Gastroesophageal Reflux Disease (GERD), procedures performed, medication prescribed, and basic demographic data.
- This dataset includes ICD9 codes of participants diagnosed with ADHD (primary/secondary diagnoses), medication prescribed and basic demographic data.
- This dataset includes ICD9 codes of primary/secondary diagnoses of participants diagnosed with high or low Low-Density Lipoprotein levels, lipid procedure codes, data of lipid values and basic demographic data.
C0012854 (UMLS CUI [1,2])
C2347026 (UMLS CUI [1,2])