CSER: The CHOP/UPenn Pediatric Genetic Sequencing Project. Homo sapiens

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

本研究旨在深入了解两类新型基因检测技术——全外显子组测序（whole exome sequencing）与全基因组测序（whole genome sequencing）。当前常规基因检测通常单次仅针对单个或少数几个基因开展检测，而全外显子组测序与全基因组测序可通过单次检测，同步完成对受试者绝大多数基因的检测。此类检测或可明确患者不明原因病症的致病缘由，或为确诊提供依据。本研究期望通过相关工作，明确以下三方面的最优实施方法：一是向患者及其家属开展全外显子组测序与全基因组测序相关的科普教育；二是对测序数据进行分析，以筛选出与患者密切相关的检测结果；三是以清晰、恰当且信息详实的方式，向患者家属告知检测结果。