The CHOP Pediatric Genetic Sequencing (PediSeq) Project : Applying Genomic Sequencing in Pediatrics

The purpose of this research study is to learn more about newer types of genetic testing called whole exome sequencing and whole genome sequencing. Current genetic testing usually examines one gene or a few genes at a time. Exome and genome sequencing allow us to test most of a person's genes at one time with a single test. This testing might identify the reason for a person's unexplained condition or diagnosis.

We hope this study will help us identify the best methods for:

• Educating patients and families about exome and genome sequencing
• Analyzing exome and genome sequencing data to identify results relevant to patients
• Giving results to families in a clear, appropriate, and informative manner

The current data only includes WES for 159 samples. The WGS samples for 20 samples will be uploaded in the near future.

• Type: Cross-Sectional
• Archiver: The database of Genotypes and Phenotypes (dbGaP)