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，其表现出大量的 结构性出生缺陷为加布里埃尔米勒儿童第一儿科研究带来了更多的机会 程序（GMKF）（项目编号（HD 107271 -01）。这个队列，与已知的和不同的遗传贡献者， 这些出生缺陷，将有助于了解潜在的分子基因的宝贵数据， 造成了许多结构性出生缺陷。然而，我们目前的表型数据库 缺乏关于相关内表型和任何治疗结果的重要细节。我们有一个 现有的扫描病历、调查和问卷答案以及我们的现场数据中的丰富数据 临床评价记录。此外，我们与参与家庭有着长期的关系， 可以跟进核实，获得新的细节，并澄清信息。我们建议扩大策划的范围， 数据元素，将人类表型本体（HPO）术语映射到那些数据元素，从而增加 数据对研究界的价值。我们的计划是加强 表型数据是首先重新评估所有现有的记录，在必要时添加额外的数据元素 数据库这项评估将为家庭生成一份报告，详细说明我们所掌握的信息和 收集信息的日期。我们会向家属询问最新情况， 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。的 增强的数据集将通过将人类表型本体（HPO）术语映射到 数据元素。这一项目的成果将是提高这些数据的可得性和质量， 更广泛的研究社区，因为这些表型数据与基因组数据相结合， 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.