eMERGE: Children's Hospital of Philadelphia - WGS

The Center for Applied Genomics (CAG) is a specialized Center of Emphasis at the Children's Hospital of Philadelphia (CHOP) with the primary goal of translating basic research findings to medical innovations. The mission of CAG is to develop new and better ways to diagnose and treat children affected by rare and complex medical disorders. We aim to discover genetic causes for the most prevalent diseases of childhood including asthma, autism, diabetes, epilepsy, obesity, schizophrenia, pediatric cancer, and a range of rare diseases. Ultimately, our objective is to generate new diagnostic tests and to guide physicians to the most appropriate therapies. The CAG is one of the world's largest genetics research programs in pediatrics, and the only center at a pediatric hospital to have established a large-scale biobank of genotyped samples. The electronic Medical Records and Genomics (eMERGE) Network is a consortium of 9 clinical sites with EMR linked DNA biobanks, including Northwestern University and its NUgene biobank, funded by the NHGRI (National Human Genome Research Institute) to investigate the use of electronic medical record systems for genomic research. The goal of eMERGE is to conduct genome-wide association studies in approximately 100,000 individuals using EMR-derived phenotypes and DNA from linked biorepositories. Using electronic phenotyping methods, the consortium has been and is using DNA samples from all participating sites to explore the genetic determinants of approximately 80 phenotypes, including both diseases and traits, for which the electronic phenotyping algorithms have or are being published on PheKB.org.]]>
Inclusion Criteria: Participants were selected for whole genome sequencing for use in eMERGE, based on the following inclusion criteria: Participants agreed to be re-contacted for future research. Participants were able to provide signed informed consent. For participants 8-18 years, assent and parental approval were required. Participants were proficient in the English language. Exclusion Criteria: Anxiety to the point of inability to comply with neurocognitive battery or neuroimaging study. Medical disorders that may impact the results and measurements obtained during neurodevelopmental evaluations or neuroimaging (e.g., seizures, significant head trauma, CNS tumor, infection) or visual performance (e.g., blindness). Conditions interfering with MR scanning including metallic inserts, orthopedic circumstances, and pregnancy, determined by a urine test in females of child bearing potential. ]]>