NHLBI TOPMed: Genetic Causes of Complex Pediatric Disorders - Asthma (GCPD-A)

The Center for Applied Genomics (CAG) at the Children's Hospital of Philadelphia (CHOP) is focused on addressing the roles of both single nucleotide variants and structural copy number variants, and their functional impact, together with gene-environment interactions and their influence on asthma drug response.]]>
TOPMed Whole Genome Sequencing Methods: Freeze 9TOPMed Whole Genome Sequencing Methods: Freeze 10A clinical team of full-time nurses and phlebotomy-certified medical assistants and associates recruits participants. We approach patients during in-/out-patient visits at over 20 core clinical sites, including emergency, ambulatory, surgical, general pediatrics, and specialty pediatric practices. We recruit patients in the age range of 0-21 years who obtain healthcare at CHOP. Parental consent is obtained for individuals aged 0-17 years and assent is obtained in subjects aged 7-17 years. Whenever possible, parents/siblings are also asked to enroll, sign informed consent, and provide a sample. All recruiters are additionally certified to obtain vital signs and collect a standardized two-page intake survey of primary medical problem (or healthy control status), medication, ancestry, and family history. Broad consent allows samples to be analyzed using any technology and to address any research question. Parents can opt-in to permit regular updates of their child's electronic health record data (EHR) and to re-contact for future study. For this study, the controls were enrolled in the above settings whereas the asthma patients were enrolled from the pulmonary and allergy asthma speciality clinics at CHOP.]]>
All 4,600 samples are recruited and have been whole genome sequenced.]]>