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

18 号染色体队列表型富集以加强 Gabriella Miller Kids First 计划

• 批准号: 10637695
• 负责人: JANNINE De Mars CODY
• 金额: $ 15.5万
• 依托单位: UNIVERSITY OF TEXAS HLTH SCIENCE CENTER
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-03-21 至 2025-02-28
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10637695
• 关键词: Address; Categories; Child; Chromosome 18; Chromosome Deletion; Communities; Complement; Congenital Abnormality; Data; Data Element; Data Set; Databases; Ensure; Evaluation; Family; Feedback; Genes; Genetic; Goals; Human; Individual; Inherited; Knowledge; Malignant Neoplasms; Maps; Medical; Medical Records; Molecular; Monitor; Mutation; Natural History; Ontology; Other Genetics; Outcome; Parents; Participant; Pediatric Hospitals; Pediatric Research; Penetrance; Periodicals; Persons; Pharmaceutical Preparations; Phenotype; Philadelphia; Questionnaires; Recontacts; Recording of previous events; Records; Reporting; Research; Research Personnel; Scanning; Site; Source; Standardization; Structural Congenital Anomalies; Surveys; System; Terminology; Treatment outcome; Update; Work; cancer diagnosis; clinical research site; cohort; data exchange; data harmonization; data integration; data interoperability; data resource; data sharing; data submission; disease classification; endophenotype; follow-up; genomic data; interoperability; phenotypic data; programs; repository; research clinical testing

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.

抽象的 具有 18 号染色体半合子缺失的 18 号染色体群体，表现出多种 结构性出生缺陷为 Gabrielle Miller Kids First 儿科研究带来了更多机会 计划 (GMKF)（项目编号 (HD107271-01)。该队列具有已知的各种遗传因素， 这些出生缺陷将为理解潜在的分子基因提供有价值的数据 多种结构性出生缺陷的促成因素。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 现有扫描病历、调查和问卷答案以及我们现场的大量数据 临床评估记录。此外，我们与参与家庭有着长期的合作关系 可以跟进核实、获取新的详细信息并澄清信息。我们建议扩大策划范围 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 研究界可获得的数据的价值。我们计划加强该项目的深度和广度 表型数据首先重新评估所有现有记录，并在必要时添加其他数据元素 到数据库。该评估将为家庭生成一份报告，详细说明我们所掌握的信息以及 收集信息的日期。我们将向家属询问任何最新信息，重点关注 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 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。该项目的成果将是提高这些数据的可访问性和质量 更广泛的研究界，因为这些表型数据与由 GMKF 程序。