Chromosome 18 Cohort Phenotype Enrichment to Strengthen the Gabriella Miller Kids First Program

摘要 具有18号染色体半合子缺失的18号染色体队列表现为大量的 结构性出生缺陷为加布里埃尔·米勒儿童首次儿科研究带来更多机会 计划(GMKF)(项目编号(HD107271-01)。这一群体，具有已知的和不同的基因贡献者 这些先天缺陷将为理解潜在的分子基因提供有价值的数据 多种结构性先天缺陷的贡献者。然而，我们目前的表型数据库 缺乏有关相关内表型和任何治疗结果的重要细节。我们有一个 现有扫描的医疗记录、调查和问卷答案以及我们现场提供的丰富数据 临床评估记录。此外，我们与参与的家庭有长期的关系， 可以跟进核实，获取新的细节，并澄清信息。我们建议扩大受策展机构的范围 数据元素，将人类表型本体(HPO)术语映射到这些数据元素，从而增加 可供研究界使用的数据的价值。我们的计划是加强 表型数据是首先重新评估所有现有记录，在必要时添加额外的数据元素 添加到数据库中。这项评估将为这些家庭生成一份报告，详细说明我们掌握的信息和 收集信息的日期。我们将要求家属提供任何最新信息，重点是 对任何结构性出生缺陷以及任何癌症诊断的评估和治疗结果。这个 增强数据集将通过将人类表型本体(HPO)术语映射到 数据元素。该项目的成果将是提高这些数据的可及性和质量 更广泛的研究社区，因为这些表型数据与由 GMKF程序。

Abstract The chromosome 18 cohort with hemizygous deletions of chromosome 18 who manifest a multitude of structural birth defects bring an expanded opportunity to the Gabrielle Miller Kids First Pediatric Research Program (GMKF) (Project number (HD107271-01). This cohort, with known and varied genetic contributors to those birth defects, will contribute valuable data toward understanding the underlying molecular gene contributors of a variety of a number of structural birth defects. However, our current phenotypic database lacks important details about the associated endophenotypes and the outcomes of any treatments. We have a wealth of data in the existing scanned medical records, survey and questionnaire answers and from our on-site clinical evaluation records. Additionally we have longstanding relationships with the participating families and can follow up to verify, get new details, and clarify information. We propose to expand the scope of the curated data elements, map Human Phenotype Ontology (HPO) terms to those data elements thereby increasing the value of the data available to the research community. Our plan to enhance the depth and scope of the phenotype data is to first reevaluate all the existing records adding additional data elements where necessary to the database. This evaluation will generate a report for the families detailing the information we have and the dates the information was gathered. We will ask the families for any updated information focusing on evaluation and treatment outcomes for any of the structural birth defects as well as any cancer diagnoses. The enhanced dataset will be standardized by the mapping of the Human Phenotype Ontology (HPO) terms to the data elements. The outcome of this project will be to increase the accessibility and quality of these data to the broader research community as these phenotype data are integrated with the genomic data generated by the GMKF program.